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: PA2828098445

Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2137120

ClinVar RCV Id: RCV003062391

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350520.1:p.Asn190Asp	CA380843743 NM_001363591.2:c.568A>G