ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913191913
Gene: GAA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Ser627Phe
CA294896504
NM_000152.5:c.1880C>T