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: PA2826419429

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 332819

ClinVar RCV Id: RCV000268813 RCV000320381 RCV000326238 RCV000370458 RCV000383052

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243779.1:p.Pro18630Thr	CA10613278 NM_001256850.1:c.55888C>A