Canonical Allele Identifier: PA891848429
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 588107
ClinVar RCV Id: RCV000734205 RCV001825434 RCV002316028 RCV003155295
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Arg363Cys
CA6162316
NM_001360.3:c.1087C>T