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: PA139178

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 46781

ClinVar RCV Id: RCV000040051 RCV000249193 RCV000643107 RCV001697103

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001254479.2:p.Thr8823Met	CA139175 NM_001267550.2:c.26468C>T