ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825964419
Gene: DHCR7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2071978
ClinVar RCV Id:
RCV002949447
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157289.1:p.Ile279Val
CA6162417
NM_001163817.2:c.835A>G