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: PA2830222047

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 467581

ClinVar RCV Id: RCV000552983

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_597676.3:p.Ile19825Thr	CA349544893 NM_133432.3:c.59474T>C