Allele Registry

Canonical Allele Identifier: PA233520

Gene: BBS4 HGNC NCBI

ClinVar RCV:

RCV000152841

RCV001085932

RCV003917487

ClinVar Variation:

166736

HGVS (amino-acid)	Matching Registered Transcripts
NP_149017.2:p.Asn350Ser	CA233519 NM_033028.5:c.1049A>G