Canonical Allele Identifier: PA3057550541
Gene: GAA HGNC NCBI
ClinVar Allele:
549168
ClinVar RCV:
RCV000673060
ClinVar Variation:
556985
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Ile446_Ala452dup
CA658824782
NM_001079804.3:c.1336_1356dup