Canonical Allele Identifier: PA2825461120
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 283230
ClinVar RCV Id: RCV000306541 RCV000725236
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Arg375Leu
CA8815178
NM_001079803.3:c.1124G>T