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: PA2828503752

Gene: TBL1XR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 392060

ClinVar RCV Id: RCV000434475

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361256.1:p.Met329Ile	CA16604489 NM_001374327.1:c.987G>A CA355555364 NM_001374327.1:c.987G>T CA355555365 NM_001374327.1:c.987G>C