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: PA2827083986

Gene: TBL1XR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 431083

ClinVar RCV Id: RCV000496144

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308122.1:p.Ser326Ile	CA355555388 NM_001321193.3:c.977G>T