Canonical Allele Identifier: PA1139671490
Gene: GAA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.His568Gln
CA401369028
NM_001079804.3:c.1704C>A
CA401369029
NM_001079804.3:c.1704C>G