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: PA2830230764

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 500101

ClinVar RCV Id: RCV000597559

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_597681.4:p.Val4079Ala	CA349610583 NM_133437.4:c.12236T>C