Canonical Allele Identifier: PA2825460814
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 290616
ClinVar RCV Id: RCV000366470 RCV001379526
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Met318Leu
CA10606846
NM_001079803.3:c.952A>T
CA401364270
NM_001079803.3:c.952A>C