ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658818246
Gene: PRKDC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000652362
ClinVar Variation:
541999
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008835.5:p.Ile1949Val
CA4740557
NM_006904.7:c.5845A>G