ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113389
Gene: GAA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.His568Leu
CA401369027
NM_000152.5:c.1703A>T