Allele Registry

Canonical Allele Identifier: PA2828716074

Gene: BBS2 HGNC NCBI

ClinVar Allele:

19623

ClinVar RCV:

RCV000004846

ClinVar Variation:

4584

HGVS (amino-acid)	Matching Registered Transcripts
NP_001364385.1:p.Gly139Val	CA253240 NM_001377456.1:c.416G>T