Canonical Allele Identifier: PA2828716106
Gene: BBS2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001364385.1:p.Asp174Glu
CA8066026
NM_001377456.1:c.522T>A
CA395984169
NM_001377456.1:c.522T>G