Canonical Allele Identifier: PA913198738
Gene: BBS2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_114091.3:p.Asp174Glu
CA8066026
NM_031885.4:c.522T>A
CA395984169
NM_031885.4:c.522T>G