Canonical Allele Identifier: PA2828736484
Gene: CCDC78 HGNC NCBI

Linked Data

ClinVar Variation Id: 2988003
ClinVar RCV Id: RCV003842122

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001364962.1:p.Ser172Pro
CA394098445
NM_001378033.1:c.514T>C