Allele Registry

Canonical Allele Identifier: PA2573074647

Gene: CCDC78 HGNC NCBI

ClinVar RCV:

RCV000544640

RCV004024231

ClinVar Variation:

473258

HGVS (amino-acid)	Matching Registered Transcripts
NP_001364960.1:p.Arg123Gln	CA7789636 NM_001378031.1:c.368G>A