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: PA2573096606

Gene: BBS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 4569

ClinVar RCV Id: RCV000004831 RCV001002877

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_114091.4:p.Val75Gly	CA253233 NM_031885.5:c.224T>G