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: PA645391741

Gene: TBL1XR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 422081

ClinVar RCV Id: RCV000482778

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_078941.2:p.Trp252Arg	CA16617845 NM_024665.7:c.754T>C CA355552249 NM_024665.7:c.754T>A