Canonical Allele Identifier: PA645485842
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 305954
ClinVar RCV Id: RCV000386515 RCV000503164 RCV000731830 RCV003950037 RCV002314045
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Thr364Met
CA6162314
NM_001360.3:c.1091C>T