Canonical Allele Identifier: PA248229
Gene: CPLANE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199170
ClinVar RCV Id: RCV000180684 RCV000201580
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_075561.3:p.Thr323Met
CA248228
NM_023073.4:c.968C>T