Canonical Allele Identifier: PA2825462548
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 189040
ClinVar RCV Id: RCV000169431 RCV001090261
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Arg702Cys
CA274304
NM_001079803.3:c.2104C>T