ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106345
Gene: DHCR7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
21276
ClinVar RCV Id:
RCV000020439
RCV001529736
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157289.1:p.Arg242His
CA341830
NM_001163817.2:c.725G>A