ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825462538
Gene: GAA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Leu699Pro
CA401370489
NM_001079803.3:c.2096T>C