Canonical Allele Identifier: PA2828052701
Gene: ABCG8 HGNC NCBI

Linked Data

ClinVar Variation Id: 500519
ClinVar RCV Id: RCV000596299 RCV000764410 RCV002358659 RCV003139895 RCV003905542
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001344250.1:p.Pro386Leu
CA1637324
NM_001357321.2:c.1157C>T