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: PA2830229511

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 496991

ClinVar RCV Id: RCV000725466 RCV001086587 RCV002350421

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_597681.4:p.Ala1868Thr	CA2005144 NM_133437.4:c.5602G>A