ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106466
Gene: DHCR7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284527
ClinVar RCV Id:
RCV000408382
RCV000725474
RCV002321954
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157289.1:p.Cys380Arg
CA6162305
NM_001163817.2:c.1138T>C