Canonical Allele Identifier: PA2825964670
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 449476
ClinVar RCV Id: RCV000519844 RCV000670231 RCV003392349
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001157289.1:p.Arg469Pro
CA6162236
NM_001163817.2:c.1406G>C