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: PA2826423298

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 2438048

ClinVar RCV Id: RCV003137213

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243779.1:p.Asp25531Val	CA349581333 NM_001256850.1:c.76592A>T