ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106385
Gene: DHCR7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6788
ClinVar RCV Id:
RCV000007190
RCV000723830
RCV001266513
RCV003407290
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157289.1:p.Arg404Cys
CA340615
NM_001163817.2:c.1210C>T