Allele Registry

Canonical Allele Identifier: PA2827051454

Gene: BBS4 HGNC NCBI

ClinVar RCV:

RCV000020942

ClinVar Variation:

21738

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307594.1:p.Ala7Val	CA342432 NM_001320665.2:c.20C>T