Allele Registry

Canonical Allele Identifier: PA2825964443

Gene: DHCR7 HGNC NCBI

ClinVar RCV:

RCV000489393

RCV002248716

ClinVar Variation:

427053

HGVS (amino-acid)	Matching Registered Transcripts
NP_001157289.1:p.Ile297Leu	CA381703044 NM_001163817.2:c.889A>C