ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA118515
Gene: DHCR7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6792
ClinVar RCV Id:
RCV000020435
RCV000790762
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351.2:p.Glu448Lys
CA118513
NM_001360.3:c.1342G>A