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: PA2826419289

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 467329

ClinVar RCV Id: RCV000527497 RCV003330777

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243779.1:p.Asp18332Asn	CA1992583 NM_001256850.1:c.54994G>A