Canonical Allele Identifier: PA106540
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 6781
ClinVar RCV Id: RCV000007183 RCV001804715
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001157289.1:p.Gly244Arg
CA253939
NM_001163817.2:c.730G>A
CA381703392
NM_001163817.2:c.730G>C