Canonical Allele Identifier: PA221667
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 6783
ClinVar RCV Id: RCV000007185 RCV000079651 RCV000454251 RCV003985253
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Thr93Met
CA221665
NM_001360.3:c.278C>T