Canonical Allele Identifier: PA1139700601
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 990549
ClinVar RCV Id: RCV001278594
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Tyr432Phe
CA381701014
NM_001360.3:c.1295A>T