Canonical Allele Identifier: PA2828981511
Gene: CPLANE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 217591
ClinVar RCV Id: RCV000255261 RCV000201619 RCV000677320
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001371661.1:p.Ala1200Val
CA277732
NM_001384732.1:c.3599C>T
CA2580573342
NM_001384732.1:c.[3599C>T;2854_2855insCT]