Canonical Allele Identifier: PA106417
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 431994
ClinVar RCV Id: RCV000498273 RCV000576656 RCV002311810
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001157289.1:p.Arg446Gln
CA6162258
NM_001163817.2:c.1337G>A