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: PA2830199397

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 332777

ClinVar RCV Id: RCV000263672 RCV000276395 RCV000299127 RCV000356101 RCV000368925

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_596869.4:p.Pro22760Leu	CA1989973 NM_133378.4:c.68279C>T