Allele Registry

Canonical Allele Identifier: PA106562

Gene: DHCR7 HGNC NCBI

ClinVar RCV:

RCV001972582

RCV003418255

ClinVar Variation:

1457187

HGVS (amino-acid)	Matching Registered Transcripts
NP_001157289.1:p.Gly410Arg	CA381701371 NM_001163817.2:c.1228G>C