ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828736240
Gene: CCDC78
HGNC
NCBI
Linked Data
ClinVar Variation Id:
540468
ClinVar RCV Id:
RCV000650511
RCV002531962
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364960.1:p.Arg179Gln
CA7789543
NM_001378031.1:c.536G>A