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: PA2830217212

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 1312710

ClinVar RCV Id: RCV001763716 RCV002506793

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_597676.3:p.Asp11832Asn	CA60967262 NM_133432.3:c.35494G>A