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: PA2830197114

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 535226

ClinVar RCV Id: RCV000643077 RCV001811137

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_596869.4:p.Leu17404Phe	CA349488759 NM_133378.4:c.52212G>T CA349488763 NM_133378.4:c.52212G>C