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: PA302844

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 195710

ClinVar RCV Id: RCV002426847 RCV000725162 RCV001086306 RCV000213905

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243779.1:p.Arg15694His	CA302842 NM_001256850.1:c.47081G>A