Canonical Allele Identifier: PA645511170
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 439746
ClinVar RCV Id: RCV000506584 RCV000526491 RCV000726935
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Met502Val
CA8815358
NM_000152.5:c.1504A>G