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: PA2580190153

Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2152114

ClinVar RCV Id: RCV003061583

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001287716.1:p.Val83Ala	CA380835254 NM_001300787.2:c.248T>C