Canonical Allele Identifier: PA2825065253
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1306213
ClinVar RCV Id: RCV001767166
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Thr250Ala
CA401363286
NM_000152.5:c.748A>G