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: PA2826424213

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 535486

ClinVar RCV Id: RCV000643491

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243779.1:p.Leu27123Phe	CA349544904 NM_001256850.1:c.81369G>T CA349544905 NM_001256850.1:c.81369G>C