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: PA2826849797

Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 99746

ClinVar RCV Id: RCV000086163

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001287715.1:p.Thr177Arg	CA227810 NM_001300786.2:c.530C>G