ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499253110
Gene: DHCR7
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001384493
ClinVar Variation:
1071907
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351.2:p.Arg443Pro
CA6162260
NM_001360.3:c.1328G>C