ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825964354
Gene: DHCR7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499993
ClinVar RCV Id:
RCV000596201
RCV000671914
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157289.1:p.Glu224Lys
CA6162492
NM_001163817.2:c.670G>A