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: PA2828098963

Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2747

ClinVar RCV Id: RCV000002870 RCV001382239

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350521.1:p.Ile205Thr	CA252411 NM_001363592.1:c.614T>C