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: PA2826418769

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 229469

ClinVar RCV Id: RCV000220640 RCV000463890 RCV002485401

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243779.1:p.Ile17383Val	CA10576512 NM_001256850.1:c.52147A>G