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: PA2830217214

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 202316

ClinVar RCV Id: RCV000184155 RCV000531028 RCV000727330 RCV002453671

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_597676.3:p.Leu11833Met	CA309064 NM_133432.3:c.35497C>A