Canonical Allele Identifier: PA913194920
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 598179
ClinVar RCV Id: RCV000734514 RCV002499377
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Ala385Thr
CA6162299
NM_001360.3:c.1153G>A