Canonical Allele Identifier: PA658759391
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 488492
ClinVar RCV Id: RCV000578237 RCV000724648
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Leu157Pro
CA6162556
NM_001360.3:c.470T>C