ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825964619
Gene: DHCR7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
397519
ClinVar RCV Id:
RCV000449623
RCV002473005
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157289.1:p.Arg443His
CA6162261
NM_001163817.2:c.1328G>A