Canonical Allele Identifier: PA658676044
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 458677
ClinVar RCV Id: RCV000551112 RCV002314950
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Val340Ile
CA6162332
NM_001360.3:c.1018G>A