Canonical Allele Identifier: PA2828052259
Gene: ABCG8 HGNC NCBI

Linked Data

ClinVar Variation Id: 4975
ClinVar RCV Id: RCV000005263 RCV000269126 RCV000266053 RCV001094725 RCV001705581 RCV002345232 RCV002490320 RCV003982825
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001344250.1:p.Asp19His
CA117156
NM_001357321.2:c.55G>C