Canonical Allele Identifier: PA2573215445
Gene: CCDC78 HGNC NCBI

Linked Data

ClinVar Variation Id: 1350786
ClinVar RCV Id: RCV002042129

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001364959.1:p.Val339Leu
CA394098895
NM_001378030.1:c.1015G>T
CA394098897
NM_001378030.1:c.1015G>C