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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:
CA945504621
Gene: SLCO1B1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1406615818
gnomAD v3:
12-21196814-C-CA
gnomAD v4:
12-21196814-C-CA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.21196820dup , CM000674.2:g.21196820dup
GRCh38
NC_000012.11:g.21349754dup , CM000674.1:g.21349754dup
GRCh37
NC_000012.10:g.21241021dup
NCBI36
NG_011745.1:g.70627dup , LRG_1022:g.70627dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000256958.3:c.728-126dup
MANE Select
ENSP00000256958.2:n.728-126dup
ENST00000256958.2:c.728-126dup
ENSP00000256958.2:n.728-126dup
NM_006446.4:c.728-126dup , LRG_1022t1:c.728-126dup
NP_006437.3:n.728-126dup
NM_006446.5:c.728-126dup
MANE Select
NP_006437.3:n.728-126dup
Search 100 bp 5'
Search 100 bp 3'