ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113152
Gene: GAA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Gln743Lys
CA401324750
NM_000152.5:c.2227C>A