Canonical Allele Identifier: PA2825459471
Gene: GAA HGNC NCBI
ClinVar RCV:
RCV001038315
ClinVar Variation:
837058
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Val3Ala
CA294886445
NM_001079803.3:c.8T>C