Canonical Allele Identifier: PA340614
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 6787
ClinVar RCV Id: RCV000007189 RCV000259783 RCV001252750 RCV003934805
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Arg352Trp
CA340612
NM_001360.3:c.1054C>T