Canonical Allele Identifier: PA658801218
Gene: GAA HGNC NCBI
ClinVar RCV:
RCV000631080
ClinVar Variation:
526535
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Leu32del
CA628018663
NM_000152.5:c.93_95del