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: PA2830194533

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 282657

ClinVar RCV Id: RCV000377741 RCV000643061

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_596869.4:p.Pro11105Leu	CA1996322 NM_133378.4:c.33314C>T