Canonical Allele Identifier: PA106771
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 6783
ClinVar RCV Id: RCV000007185 RCV000079651 RCV000454251 RCV003985253
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001157289.1:p.Thr93Met
CA221665
NM_001163817.2:c.278C>T