Canonical Allele Identifier: PA2825064825
Gene: GAA HGNC NCBI
ClinVar RCV:
RCV002304196
ClinVar Variation:
1720069
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Leu18Phe
CA401360057
NM_000152.5:c.52C>T