Canonical Allele Identifier: PA645485844
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 281496
ClinVar RCV Id: RCV000259933 RCV001828180 RCV002317798 RCV003155146
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Arg367Cys
CA6162313
NM_001360.3:c.1099C>T