Canonical Allele Identifier: PA253938
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 6780
ClinVar RCV Id: RCV000007182 RCV000274996
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.His119Leu
CA253936
NM_001360.3:c.356A>T