Canonical Allele Identifier: PA2828052686
Gene: ABCG8 HGNC NCBI

Linked Data

ClinVar Variation Id: 336075
ClinVar RCV Id: RCV000333238 RCV000595016 RCV002436203 RCV003950162 RCV002519974
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001344250.1:p.Cys373Arg
CA1637285
NM_001357321.2:c.1117T>C