Canonical Allele Identifier: PA2825461246
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 694452
ClinVar RCV Id: RCV000855786 RCV002223962
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Leu398Pro
CA401365139
NM_001079803.3:c.1193T>C