Canonical Allele Identifier: PA2825964596
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 199067
ClinVar RCV Id: RCV000513082 RCV002054152
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001157289.1:p.Gly424Ser
CA248059
NM_001163817.2:c.1270G>A