Canonical Allele Identifier: PA2499292536
Gene: BBS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1044382
ClinVar RCV Id: RCV001348618

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_114091.4:p.Ala80Val
CA395985797
NM_031885.5:c.239C>T