Canonical Allele Identifier: PA915964353
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 255365
ClinVar RCV Id: RCV000244709 RCV002374412 RCV000631081
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Val220Leu
CA8814955
NM_001079804.3:c.658G>T
CA401362471
NM_001079804.3:c.658G>C