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: PA2829483298

Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2137120

ClinVar RCV Id: RCV003062391

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004174.1:p.Asn296Asp	CA380843743 NM_004183.3:c.886A>G