Canonical Allele Identifier: PA2828715981
Gene: BBS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 285263
ClinVar RCV Id: RCV000305383 RCV000725618 RCV001075302 RCV002250616 RCV002519177
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001364385.1:p.Val40Phe
CA10605056
NM_001377456.1:c.118G>T