Canonical Allele Identifier: PA2828052816
Gene: ABCG8 HGNC NCBI

Linked Data

ClinVar Variation Id: 282034
ClinVar RCV Id: RCV000301884 RCV000305538 RCV002502099 RCV002392797 RCV003401237 RCV003137881
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001344250.1:p.Tyr478Cys
CA1637453
NM_001357321.2:c.1433A>G