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: PA2826416780

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 288762

ClinVar RCV Id: RCV000726219 RCV000555954

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243779.1:p.Ile13613Phe	CA1995375 NM_001256850.1:c.40837A>T