Canonical Allele Identifier: PA2825964139
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 93723
ClinVar RCV Id: RCV000079659 RCV000380891 RCV001554963 RCV002313767 RCV003925050
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001157289.1:p.Ala24Ser
CA147253
NM_001163817.2:c.70G>T