Canonical Allele Identifier: PA658674412
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 456395
ClinVar RCV Id: RCV000558189 RCV002431531
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Val740Met
CA8815659
NM_000152.5:c.2218G>A