Canonical Allele Identifier: PA274345
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 189069
ClinVar RCV Id: RCV000169472 RCV001171660 RCV002453569
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351.2:p.Cys380Tyr
CA274343
NM_001360.3:c.1139G>A