ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827421998
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_001334967.1:p.Thr611Asn
CA241249
NM_001348038.3:c.1832C>A