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: PA2826422489

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 518969

ClinVar RCV Id: RCV000620531 RCV000871033 RCV002066934

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243779.1:p.Leu24127Ile	CA1989796 NM_001256850.1:c.72379C>A