Canonical Allele Identifier: PA2499289759
Gene: CPLANE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1060998
ClinVar RCV Id: RCV001370504
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_075561.3:p.Ser474Arg
CA359503202
NM_023073.4:c.1422C>G
CA359503210
NM_023073.4:c.1422C>A
CA359503263
NM_023073.4:c.1420A>C