ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825964669
Gene: DHCR7
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000732813
RCV001110781
RCV001844232
ClinVar Variation:
596851
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157289.1:p.Arg469His
CA6162235
NM_001163817.2:c.1406G>A