Canonical Allele Identifier: PA2825964188
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 166989
ClinVar RCV Id: RCV000153144 RCV000897661 RCV001487990 RCV003917497 RCV002415645
ClinVar Variation Id: 706368
ClinVar RCV Id: RCV000876959
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001157289.1:p.Gly70Ser
CA233887
NM_001163817.2:c.208G>A
CA915948246
NM_001163817.2:c.207_208delinsCA