Canonical Allele Identifier: PA645428483
Gene: AAAS HGNC NCBI

Linked Data

ClinVar Variation Id: 309718
ClinVar RCV Id: RCV000343022 RCV000886859
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056480.1:p.Gly533Arg
CA6598796
NM_015665.6:c.1597G>A
CA385034680
NM_015665.6:c.1597G>C