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: PA2829433660

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_003310.4:p.Ile7618Asn	CA16603286 NM_003319.4:c.22853T>A