Canonical Allele Identifier: PA253951
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 6790
ClinVar RCV Id: RCV000007192 RCV003407291
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Tyr280Cys
CA253949
NM_001360.3:c.839A>G