Allele Registry

Canonical Allele Identifier: PA658828901

Gene: DHCR7 HGNC NCBI

ClinVar RCV:

RCV000674586

ClinVar Variation:

558335

HGVS (amino-acid)	Matching Registered Transcripts
NP_001351.2:p.Pro243Arg	CA6162479 NM_001360.3:c.728C>G