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: PA2830200151

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 467536

ClinVar RCV Id: RCV000620567 RCV000532629

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_596869.4:p.Pro24605Ala	CA1989199 NM_133378.4:c.73813C>G