ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825964572
Gene: DHCR7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1675468
ClinVar RCV Id:
RCV002211197
RCV003507402
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157289.1:p.Arg404His
CA381701465
NM_001163817.2:c.1211G>A