ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106646
Gene: DHCR7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
488492
ClinVar RCV Id:
RCV000578237
RCV000724648
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157289.1:p.Leu157Pro
CA6162556
NM_001163817.2:c.470T>C