ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658818246
Gene: PRKDC
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_008835.5:p.Ile1949Val
NM_006904.7:c.5845A>G