Canonical Allele Identifier: PA2580217915
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1785130
ClinVar RCV Id: RCV002421879

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Asp359Glu
CA381702137
NM_001360.3:c.1077C>G
CA381702139
NM_001360.3:c.1077C>A