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: PA2826491945

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 282312

ClinVar RCV Id: RCV000336660 RCV000725065 RCV002436098

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001254479.2:p.Leu1000Phe	CA2005669 NM_001267550.2:c.2998C>T