Allele Registry

Canonical Allele Identifier: PA2827051458

Gene: BBS4 HGNC NCBI

ClinVar RCV:

RCV000400282

RCV001094446

ClinVar Variation:

317058

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307594.1:p.Pro13Ser	CA7646456 NM_001320665.2:c.37C>T