Canonical Allele Identifier: PA113428
Gene: GAA HGNC NCBI
ClinVar RCV:
RCV000674934
ClinVar Variation:
558634
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Ile557Phe
CA401368911
NM_000152.5:c.1669A>T