Canonical Allele Identifier: PA111060
Gene: ABCG8 HGNC NCBI

Linked Data

ClinVar Variation Id: 4973
ClinVar RCV Id: RCV000005261
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_071882.1:p.Leu596Arg
CA253368
NM_022437.3:c.1787T>G