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: PA2580464296

Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2057607

ClinVar RCV Id: RCV002923444

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_078925.3:p.Met1Ile