Canonical Allele Identifier: PA658678728
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 456445
ClinVar RCV Id: RCV000530125
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Gln323His
CA401364409
NM_000152.5:c.969G>C
CA401364411
NM_000152.5:c.969G>T