Canonical Allele Identifier: PA2573291611
Gene: BBS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1481698
ClinVar RCV Id: RCV002000607
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_114091.4:p.Ala122Gly
CA395984517
NM_031885.5:c.365C>G