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: PA2829439433

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 405048

ClinVar RCV Id: RCV000464905 RCV000597470 RCV002339120 RCV003330689

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003310.4:p.Arg17563Pro	CA1989422 NM_003319.4:c.52688G>C