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: PA2826426978

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 332707

ClinVar RCV Id: RCV000309603 RCV000285084 RCV000340060 RCV000392740 RCV001288587 RCV000404248

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243779.1:p.Lys31498Glu	CA1986187 NM_001256850.1:c.94492A>G