Canonical Allele Identifier: PA2828052918
Gene: ABCG8 HGNC NCBI

Linked Data

ClinVar Variation Id: 281519
ClinVar RCV Id: RCV000331475 RCV000365326 RCV001421565 RCV004021079 RCV003977731
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001344250.1:p.Ala548Thr
CA1637574
NM_001357321.2:c.1642G>A