Canonical Allele Identifier: PA2828052964
Gene: ABCG8 HGNC NCBI

Linked Data

ClinVar Variation Id: 4968
ClinVar RCV Id: RCV000005256 RCV000726168 RCV000993692 RCV002408452 RCV003407278
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001344250.1:p.Gly573Arg
CA253361
NM_001357321.2:c.1717G>A
CA346670658
NM_001357321.2:c.1717G>C