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: PA284255

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 47648

ClinVar RCV Id: RCV000040917 RCV000242068 RCV000270661 RCV000325661 RCV000331451 RCV000364714 RCV000389547 RCV000714123 RCV001521508

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243779.1:p.Lys3154Arg	CA284252 NM_001256850.1:c.9461A>G