Canonical Allele Identifier: PA2826090334
Gene: AAAS HGNC NCBI

Linked Data

ClinVar Variation Id: 5045
ClinVar RCV Id: RCV000005348 RCV000311283 RCV000415076 RCV000624696
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001166937.1:p.Ser230Pro
CA117228
NM_001173466.2:c.688T>C