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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA603658379
Gene: SLCO1B1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1208806280
gnomAD v2:
12-21349839-CA-C
gnomAD v4:
12-21196905-CA-C
MyVariant Identifiers:
chr12:g.21349840del (hg19)
chr12:g.21196906del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.21196909del , CM000674.2:g.21196909del
GRCh38
NC_000012.11:g.21349843del , CM000674.1:g.21349843del
GRCh37
NC_000012.10:g.21241110del
NCBI36
NG_011745.1:g.70716del , LRG_1022:g.70716del
Transcript Alleles
HGVS
Amino-acid change
ENST00000256958.3:c.728-37del
MANE Select
ENSP00000256958.2:n.728-37del
ENST00000256958.2:c.728-37del
ENSP00000256958.2:n.728-37del
NM_006446.4:c.728-37del , LRG_1022t1:c.728-37del
NP_006437.3:n.728-37del
NM_006446.5:c.728-37del
MANE Select
NP_006437.3:n.728-37del
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