Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2580464298

Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2067846

ClinVar RCV Id: RCV002970700

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_078925.3:p.Ala3Ser	CA381453177 NM_024649.5:c.7G>T