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: PA2573096564

Gene: BBS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 4577

ClinVar RCV Id: RCV000004839 RCV000190985 RCV000587645 RCV000762969 RCV000665304 RCV001002876 RCV001582466 RCV004532290

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_114091.4:p.Asp104Ala	CA116932 NM_031885.5:c.311A>C