ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828982052
Gene: CPLANE1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000404414
RCV000914220
ClinVar Variation:
353440
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371661.1:p.Lys2367Glu
CA3238140
NM_001384732.1:c.7099A>G