Canonical Allele Identifier: PA2573176740
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 932901
ClinVar RCV Id: RCV001200869
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Asp518_Met519insAsn
CA913186005
NM_001079804.3:c.1553_1555dup