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: PA2826490930

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 509725

ClinVar RCV Id: RCV000613481 RCV003486892

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001254479.2:p.Thr66Met	CA2006395 NM_001267550.2:c.197C>T