Canonical Allele Identifier: PA645485636
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 280065
ClinVar RCV Id: RCV000383910 RCV000670451
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Ala247Val
CA10603223
NM_001360.3:c.740C>T