Canonical Allele Identifier: PA2499253253
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1066076
ClinVar RCV Id: RCV001376981
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.His442Asp
CA381700849
NM_001360.3:c.1324C>G