Canonical Allele Identifier: PA2828052851
Gene: ABCG8 HGNC NCBI

Linked Data

ClinVar Variation Id: 3129915
ClinVar RCV Id: RCV004418260
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001344250.1:p.Cys504Ser
CA346670244
NM_001357321.2:c.1510T>A
CA346670248
NM_001357321.2:c.1511G>C