Allele Registry

Canonical Allele Identifier: PA2580464302

Gene: BBS1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_078925.3:p.Met31Ile	CA381453724 NM_024649.5:c.93G>A CA381453725 NM_024649.5:c.93G>C CA381453726 NM_024649.5:c.93G>T