Canonical Allele Identifier: PA2499237174
Gene: GAA HGNC NCBI
ClinVar RCV:
RCV001367724
ClinVar Variation:
1058568
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Pro39Thr
CA401360278
NM_001079804.3:c.115C>A