ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA335827
Gene: CCDC40
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
213412
ClinVar RCV:
RCV000195666
RCV000610187
RCV001125861
RCV001657985
RCV003907743
ClinVar Variation:
215523
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060420.2:p.Thr558Arg
CA335826
NM_017950.4:c.1673C>G