Canonical Allele Identifier: PA233886
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 166988
ClinVar RCV Id: RCV000179381 RCV000790776 RCV003917496 RCV002312988
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Thr154Arg
CA233884
NM_001360.3:c.461C>G