Canonical Allele Identifier: PA2825964531
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 305954
ClinVar RCV Id: RCV000386515 RCV000503164 RCV000731830 RCV003950037 RCV002314045
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001157289.1:p.Thr364Met
CA6162314
NM_001163817.2:c.1091C>T