ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA351664
Gene: BBS7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217436
ClinVar RCV Id:
RCV000207525
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_789794.1:p.Leu317Val
CA351663
NM_176824.3:c.949C>G