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: PA2826417516

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 377167

ClinVar RCV Id: RCV000441173

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243779.1:p.Ile15042Asn	CA16603286 NM_001256850.1:c.45125T>A