ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106828
Gene: DHCR7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93724
ClinVar RCV Id:
RCV000079660
RCV000180218
RCV000624268
RCV003935034
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157289.1:p.Val281Met
CA221680
NM_001163817.2:c.841G>A