ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828981665
Gene: CPLANE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
210553
ClinVar RCV Id:
RCV000192922
RCV000625259
RCV000726605
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371661.1:p.His1506Arg
CA206075
NM_001384732.1:c.4517A>G