Canonical Allele Identifier: PA106423
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 652894
ClinVar RCV Id: RCV000808556 RCV001560504 RCV002381791
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001157289.1:p.Arg450Leu
CA6162253
NM_001163817.2:c.1349G>T
CA915948241
NM_001163817.2:c.1349_1350delinsTG