Canonical Allele Identifier: PA645485846
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 284527
ClinVar RCV Id: RCV000408382 RCV000725474 RCV002321954
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Cys380Arg
CA6162305
NM_001360.3:c.1138T>C