Allele Registry

Canonical Allele Identifier: PA2829888713

Gene: BBS7 HGNC NCBI

ClinVar RCV:

RCV000207525

ClinVar Variation:

217436

HGVS (amino-acid)	Matching Registered Transcripts
NP_060660.2:p.Leu317Val	CA351663 NM_018190.4:c.949C>G