Allele Registry

Canonical Allele Identifier: PA2573206544

Gene: DHCR7 HGNC NCBI

ClinVar RCV:

RCV001949400

ClinVar Variation:

1458037

HGVS (amino-acid)	Matching Registered Transcripts
NP_001351.2:p.Ser192Phe	CA6162531 NM_001360.3:c.575C>T