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: PA310210

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 202763

ClinVar RCV Id: RCV000559556 RCV000726175 RCV001798652 RCV002453680

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243779.1:p.Arg19195Gln	CA310209 NM_001256850.1:c.57584G>A