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: PA2826428119

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 228179

ClinVar RCV Id: RCV000219152 RCV000245827 RCV000643650 RCV000725877

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243779.1:p.Ile32886Thr	CA1985583 NM_001256850.1:c.98657T>C