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: PA2830223998

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 132134

ClinVar RCV Id: RCV000119022 RCV000986937

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_597676.3:p.Trp22789Arg	CA358822 NM_133432.3:c.68365T>C CA349465864 NM_133432.3:c.68365T>A