ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825478222
Gene: PRKDC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001075109.1:p.Gly3149Asp
CA4739564
NM_001081640.2:c.9446G>A