Canonical Allele Identifier: PA2825066457
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2195221
ClinVar RCV Id: RCV002628506
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Thr833Ile
CA8815775
NM_000152.5:c.2498C>T