Canonical Allele Identifier: PA658828950
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 557359
ClinVar RCV Id: RCV000673491
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Arg443Cys
CA6162263
NM_001360.3:c.1327C>T