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: PA284231

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 47629

ClinVar RCV Id: RCV000040898 RCV000263770 RCV000249737 RCV000260379 RCV000362056 RCV000330612 RCV000356466 RCV000467980 RCV001795032

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001254479.2:p.Val33527Ile	CA284227 NM_001267550.2:c.100579G>A