Allele Registry

Canonical Allele Identifier: PA2573096606

Gene: BBS2 HGNC NCBI

ClinVar Allele:

19608

ClinVar RCV:

RCV000004831

RCV001002877

ClinVar Variation:

4569

HGVS (amino-acid)	Matching Registered Transcripts
NP_114091.4:p.Val75Gly	CA253233 NM_031885.5:c.224T>G