Allele Registry

Canonical Allele Identifier: PA658676040

Gene: DHCR7 HGNC NCBI

ClinVar RCV:

RCV000525900

RCV001280755

ClinVar Variation:

458678

HGVS (amino-acid)	Matching Registered Transcripts
NP_001351.2:p.Tyr324His	CA381702573 NM_001360.3:c.970T>C