Canonical Allele Identifier: PA915964823
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 92472
ClinVar RCV Id: RCV000174831 RCV000792061
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Arg702Leu
CA220396
NM_001079804.3:c.2105G>T