Allele Registry

Canonical Allele Identifier: PA658805346

Gene: BBS7 HGNC NCBI

ClinVar RCV:

RCV000625806

ClinVar Variation:

522666

HGVS (amino-acid)	Matching Registered Transcripts
NP_789794.1:p.Gly42Glu	CA358045190 NM_176824.3:c.125G>A