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: PA2830204031

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 1417886

ClinVar RCV Id: RCV001940287

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_596869.4:p.Arg32267Ser	CA349411521 NM_133378.4:c.96801A>T CA349411522 NM_133378.4:c.96801A>C