ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA094529
Gene: DKC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11591
ClinVar RCV Id:
RCV000012349
RCV000254868
RCV000816060
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354.1:p.Thr49Met
CA156187
NM_001363.5:c.146C>T