Allele Registry

Canonical Allele Identifier: PA2828736226

Gene: CCDC78 HGNC NCBI

ClinVar RCV:

RCV000537626

RCV003156257

ClinVar Variation:

473259

HGVS (amino-acid)	Matching Registered Transcripts
NP_001364960.1:p.Asn156Lys	CA7789585 NM_001378031.1:c.468T>G CA394103163 NM_001378031.1:c.468T>A