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: PA2826590343

Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 2057329

ClinVar RCV Id: RCV002923302 RCV002923301

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268652.2:p.Ala513Val	CA2277500 NM_001281723.3:c.1538C>T