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: PA2830241474

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 203051

ClinVar RCV Id: RCV000727859 RCV001085795 RCV004525889 RCV004539727 RCV002381616

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_597681.4:p.Ala24443Thr