Allele Registry

Canonical Allele Identifier: PA2826355266

Gene: BBS4 HGNC NCBI

ClinVar RCV:

RCV000009716

RCV001002881

ClinVar Variation:

9145

HGVS (amino-acid)	Matching Registered Transcripts
NP_001239607.1:p.Arg123Pro	CA254669 NM_001252678.2:c.368G>C