ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825793847
Gene: DKC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
379736
ClinVar RCV Id:
RCV000442656
RCV000779660
RCV001257984
RCV003530047
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135935.1:p.Arg378Gln
CA16608850
NM_001142463.2:c.1133G>A