Canonical Allele Identifier: PA2826337062
Gene: CEP57 HGNC NCBI

Linked Data

ClinVar Variation Id: 472259
ClinVar RCV Id: RCV000525894 RCV003935493
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001230705.1:p.Arg217His
CA6239561
NM_001243776.2:c.650G>A