ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828981506
Gene: CPLANE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
265062
ClinVar RCV Id:
RCV000255984
RCV001004928
RCV004556055
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371661.1:p.Arg1193Cys
CA3238910
NM_001384732.1:c.3577C>T