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: PA2826419288

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 535226

ClinVar RCV Id: RCV000643077 RCV001811137

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243779.1:p.Leu18331Phe	CA349488759 NM_001256850.1:c.54993G>T CA349488763 NM_001256850.1:c.54993G>C