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: PA178520

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 165851

ClinVar RCV Id: RCV000152222 RCV000643884 RCV000184785 RCV000617839

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_596869.4:p.Gly21302Ser	CA178519 NM_133378.4:c.63904G>A