Allele Registry

Canonical Allele Identifier: PA2828736449

Gene: CCDC78 HGNC NCBI

ClinVar RCV:

RCV000116606

RCV001082148

ClinVar Variation:

128634

HGVS (amino-acid)	Matching Registered Transcripts
NP_001364962.1:p.Asn133Lys	CA230972 NM_001378033.1:c.399C>A CA394099158 NM_001378033.1:c.399C>G