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: PA2829432052

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 995339

ClinVar RCV Id: RCV001289376 RCV003336372

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003310.4:p.Pro4604del	CA1996323 NM_003319.4:c.13810_13812del