Allele Registry

Canonical Allele Identifier: PA106799

Gene: DHCR7 HGNC NCBI

ClinVar RCV:

RCV000007184

ClinVar Variation:

6782

HGVS (amino-acid)	Matching Registered Transcripts
NP_001157289.1:p.Trp248Cys	CA253942 NM_001163817.2:c.744G>T CA381703365 NM_001163817.2:c.744G>C