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: PA2830194984

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 285627

ClinVar RCV Id: RCV000338270 RCV000539417 RCV000725703

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_596869.4:p.Arg12111Gln	CA1995765 NM_133378.4:c.36332G>A