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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:
CA2617896311
Gene: SLCO1B1
HGNC
NCBI
Linked Data
gnomAD v4:
12-21178451-TA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.21178454del , CM000674.2:g.21178454del
GRCh38
NC_000012.11:g.21331388del , CM000674.1:g.21331388del
GRCh37
NC_000012.10:g.21222655del
NCBI36
NG_011745.1:g.52261del , LRG_1022:g.52261del
Transcript Alleles
HGVS
Amino-acid change
ENST00000256958.3:c.482-122del
MANE Select
ENSP00000256958.2:n.482-122del
ENST00000256958.2:c.482-122del
ENSP00000256958.2:n.482-122del
NM_006446.4:c.482-122del , LRG_1022t1:c.482-122del
NP_006437.3:n.482-122del
NM_006446.5:c.482-122del
MANE Select
NP_006437.3:n.482-122del
Search 100 bp 5'
Search 100 bp 3'