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: PA2826742862

Gene: BTK HGNC NCBI

Linked Data

ClinVar Variation Id: 381632

ClinVar RCV Id: RCV000432214

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274274.1:p.Thr426Ile	CA16608229 NM_001287345.2:c.1277C>T