ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827421706
Gene: BBS9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
265988
ClinVar RCV Id:
RCV000256397
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334967.1:p.Val171Ala
CA10588927
NM_001348038.3:c.512T>C