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: PA2828098427

Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 166746

ClinVar RCV Id: RCV000723944 RCV001270355 RCV001262506

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350520.1:p.Tyr178Cys	CA233532 NM_001363591.2:c.533A>G