Canonical Allele Identifier: PA2573176744
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1506038
ClinVar RCV Id: RCV002035896
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Pro522Leu
CA401367210
NM_001079804.3:c.1565C>T