ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA233520
Gene: BBS4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166736
ClinVar RCV Id:
RCV000152841
RCV001085932
RCV003917487
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149017.2:p.Asn350Ser
CA233519
NM_033028.5:c.1049A>G