Allele Registry

Canonical Allele Identifier: PA2573074672

Gene: CCDC78 HGNC NCBI

ClinVar RCV:

RCV000116603

RCV001516757

RCV001636659

ClinVar Variation:

128631

HGVS (amino-acid)	Matching Registered Transcripts
NP_001364960.1:p.Trp252Arg	CA152208 NM_001378031.1:c.754T>C CA394101022 NM_001378031.1:c.754T>A