Canonical Allele Identifier: PA2827423634
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_001334970.1:p.Thr702Asn
CA241249
NM_001348041.4:c.2105C>A