Canonical Allele Identifier: PA2828981214
Gene: CPLANE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1060998
ClinVar RCV Id: RCV001370504

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001371661.1:p.Ser474Arg
CA359503202
NM_001384732.1:c.1422C>G
CA359503210
NM_001384732.1:c.1422C>A
CA359503263
NM_001384732.1:c.1420A>C