ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499237166
Gene: GAA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.Ile798Val
CA8815725
NM_001079804.3:c.2392A>G