ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645486903
Gene: CCDC78
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000504010
RCV000540447
ClinVar Variation:
434621
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026907.2:p.Val244Ile
CA7789446
NM_001031737.3:c.730G>A