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: PA2829483194

Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 999701

ClinVar RCV Id: RCV001295730 RCV001780238

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004174.1:p.Val143Leu	CA380835243 NM_004183.3:c.427G>C