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: PA2830220217

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 2438258

ClinVar RCV Id: RCV003137423

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_597676.3:p.Glu16857Gln	CA349610731 NM_133432.3:c.50569G>C