Canonical Allele Identifier: PA106835
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 6785
ClinVar RCV Id: RCV000007187 RCV001550331
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001157289.1:p.Val326Leu
CA340609
NM_001163817.2:c.976G>T
CA381702557
NM_001163817.2:c.976G>C