Canonical Allele Identifier: PA2580466233
Gene: BBS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2050443
ClinVar RCV Id: RCV002914517
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_114091.4:p.Leu87Phe
CA395985715
NM_031885.5:c.259C>T