ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828981133
Gene: CPLANE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217593
ClinVar RCV Id:
RCV000201759
RCV001065433
RCV003390946
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371661.1:p.Asn273His
CA279544
NM_001384732.1:c.817A>C