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: PA2826418372

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 165972

ClinVar RCV Id: RCV000152304 RCV000172310

ClinVar Variation Id: 2438169

ClinVar RCV Id: RCV003137334

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243779.1:p.Gly16651Arg	CA178724 NM_001256850.1:c.49951G>C CA349546891 NM_001256850.1:c.49951G>A