Canonical Allele Identifier: PA2828167156
Gene: NBEAL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2290172
ClinVar RCV Id: RCV002854185

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352045.1:p.Ser1267Arg
CA352516316
NM_001365116.2:c.3799A>C
CA352516321
NM_001365116.2:c.3801C>A
CA352516322
NM_001365116.2:c.3801C>G