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: PA2826423085

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 332767

ClinVar RCV Id: RCV000262505 RCV000265841 RCV000317678 RCV000372563 RCV000375943

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243779.1:p.Ser25187Arg	CA10611616 NM_001256850.1:c.75561C>G CA349588598 NM_001256850.1:c.75561C>A CA349588607 NM_001256850.1:c.75559A>C