ClinGen Allele Registry
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Canonical Allele Identifier:
PA279545
Gene: CPLANE1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000201759
RCV001065433
RCV003390946
ClinVar Variation:
217593
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075561.3:p.Asn273His
CA279544
NM_023073.4:c.817A>C