ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA094502
Gene: DKC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
47545
ClinVar RCV:
RCV000032193
RCV004018696
ClinVar Variation:
38942
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354.1:p.Pro409Leu
CA343226
NM_001363.5:c.1226C>T