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: PA2830220839

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 332767

ClinVar RCV Id: RCV000262505 RCV000265841 RCV000317678 RCV000372563 RCV000375943

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_597676.3:p.Ser17888Arg	CA10611616 NM_133432.3:c.53664C>G CA349588598 NM_133432.3:c.53664C>A CA349588607 NM_133432.3:c.53662A>C