Canonical Allele Identifier: PA658826228
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 555998
ClinVar RCV Id: RCV000671932 RCV001576168 RCV002307586
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Val350Met
CA8815133
NM_000152.5:c.1048G>A