Canonical Allele Identifier: PA2825460474
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 582864
ClinVar RCV Id: RCV000707045 RCV001766565 RCV003165928
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Ser249Pro
CA401363271
NM_001079803.3:c.745T>C