Allele Registry

Canonical Allele Identifier: PA2827051683

Gene: BBS4 HGNC NCBI

ClinVar Allele:

177020

ClinVar RCV:

RCV000152841

RCV001085932

RCV003917487

ClinVar Variation:

166736

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307594.1:p.Asn327Ser	CA233519 NM_001320665.2:c.980A>G