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: PA2830225084

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 47618

ClinVar RCV Id: RCV000040887 RCV001697105

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_597676.3:p.Arg24283His	CA141517 NM_133432.3:c.72848G>A