Canonical Allele Identifier: PA658801270
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 497673
ClinVar RCV Id: RCV000597199 RCV000698293 RCV003323624
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Asp459His
CA294893978
NM_000152.5:c.1375G>C