ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573077436
Gene: CPLANE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
353421
ClinVar RCV Id:
RCV000382022
RCV000646708
RCV002307488
RCV003343795
RCV000419680
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371661.1:p.Pro2893Leu
CA3237697
NM_001384732.1:c.8678C>T