Canonical Allele Identifier: PA2828052244
Gene: ABCG8 HGNC NCBI
ClinVar RCV:
RCV001730333
ClinVar Variation:
1299903
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001344250.1:p.Gly10Ala
CA346662482
NM_001357321.2:c.29G>C