Allele Registry

Canonical Allele Identifier: PA147255

Gene: DHCR7 HGNC NCBI

ClinVar Allele:

99626

ClinVar RCV:

RCV000079659

RCV000380891

RCV001554963

RCV002313767

RCV003925050

ClinVar Variation:

93723

HGVS (amino-acid)	Matching Registered Transcripts
NP_001351.2:p.Ala24Ser	CA147253 NM_001360.3:c.70G>T