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: PA2830213252

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 995339

ClinVar RCV Id: RCV001289376 RCV003336372

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_597676.3:p.Pro4729del	CA1996323 NM_133432.3:c.14185_14187del