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: PA2828098909

Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2740

ClinVar RCV Id: RCV000002862 RCV000002863 RCV000086135 RCV000787541 RCV001075875 RCV004532276

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350521.1:p.Arg141His	CA115724 NM_001363592.1:c.422G>A