Canonical Allele Identifier: PA145780
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 92482
ClinVar RCV Id: RCV000078178 RCV000308857 RCV000675250 RCV002433584
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Thr927Ile
CA145778
NM_000152.5:c.2780C>T