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: PA2829438544

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 332781

ClinVar RCV Id: RCV000315306 RCV000344514 RCV000365719 RCV000401598 RCV000393320 RCV000862066

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003310.4:p.His16000Arg	CA1990089 NM_003319.4:c.47999A>G