Canonical Allele Identifier: PA2580217923
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2174465
ClinVar RCV Id: RCV002587904
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Arg450Cys
CA6162254
NM_001360.3:c.1348C>T