Canonical Allele Identifier: PA2827423047
Gene: BBS9 HGNC NCBI

Linked Data

ClinVar Variation Id: 194995
ClinVar RCV Id: RCV000175493 RCV001087341 RCV003150969 RCV003907570
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001334969.1:p.Thr662Asn
CA241249
NM_001348040.3:c.1985C>A