Canonical Allele Identifier: PA2825964523
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 305955
ClinVar RCV Id: RCV000292578
ClinVar Variation Id: 1455459
ClinVar RCV Id: RCV001946599

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001157289.1:p.Phe361Leu
CA6162320
NM_001163817.2:c.1083C>A
CA381702110
NM_001163817.2:c.1083C>G
CA381702119
NM_001163817.2:c.1081T>C