Canonical Allele Identifier: PA2580382095
Gene: NBEAL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2290172
ClinVar RCV Id: RCV002854185

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055990.1:p.Ser1301Arg
CA352516316
NM_015175.3:c.3901A>C
CA352516321
NM_015175.3:c.3903C>A
CA352516322
NM_015175.3:c.3903C>G