Allele Registry

Canonical Allele Identifier: PA2573096561

Gene: BBS2 HGNC NCBI

ClinVar Allele:

205603

ClinVar RCV:

RCV000190987

RCV000675055

RCV001002878

RCV001380380

RCV004539761

ClinVar Variation:

209042

HGVS (amino-acid)	Matching Registered Transcripts
NP_114091.4:p.Ala33Asp	CA204968 NM_031885.5:c.98C>A