ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645392722
Gene: CCDC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
262003
ClinVar RCV Id:
RCV000242410
RCV001683122
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114429.2:p.Asp381Asn
CA9528538
NM_032040.5:c.1141G>A