Canonical Allele Identifier: PA2825964605
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1506319
ClinVar RCV Id: RCV002006640
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001157289.1:p.Tyr432His
CA6162267
NM_001163817.2:c.1294T>C