Canonical Allele Identifier: PA2825066460
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1514233
ClinVar RCV Id: RCV002029184
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Pro840Ala
CA294857971
NM_000152.5:c.2518C>G