Canonical Allele Identifier: PA113263
Gene: GAA HGNC NCBI
ClinVar RCV:
RCV000666316
ClinVar Variation:
551295
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Gly478Arg
CA8815317
NM_000152.5:c.1432G>A
CA401366650
NM_000152.5:c.1432G>C