Canonical Allele Identifier: PA1139685690
Gene: GAA HGNC NCBI
ClinVar RCV:
RCV001248345
ClinVar Variation:
972340
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Pro54Leu
CA8814799
NM_001079804.3:c.161C>T