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: PA2830213985

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 192166

ClinVar RCV Id: RCV000172669 RCV000412693 RCV000468053

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_597676.3:p.Gly6053Glu	CA302630 NM_133432.3:c.18158G>A