Canonical Allele Identifier: PA279379
Gene: CPLANE1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_075561.3:p.Arg944His
CA279378
NM_023073.4:c.2831G>A