ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828736512
Gene: CCDC78
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000538424
ClinVar Variation:
473250
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364962.1:p.Arg216Gln
CA7789117
NM_001378033.1:c.647G>A