Allele Registry

Canonical Allele Identifier: PA2828736158

Gene: CCDC78 HGNC NCBI

ClinVar Allele:

465947

ClinVar RCV:

RCV000538424

ClinVar Variation:

473250

HGVS (amino-acid)	Matching Registered Transcripts
NP_001364959.1:p.Arg405Gln	CA7789117 NM_001378030.1:c.1214G>A