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: PA2830203042

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 203060

ClinVar RCV Id: RCV000185076 RCV003137748

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_596869.4:p.Lys30960Glu	CA311118 NM_133378.4:c.92878A>G