Canonical Allele Identifier: PA645481800
Gene: GAA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Gly483Arg
CA8815349
NM_000152.5:c.1447G>A
CA401366800
NM_000152.5:c.1447G>C