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: PA2826419121

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 47143

ClinVar RCV Id: RCV000040413 RCV000642907 RCV002225278 RCV004541162

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243779.1:p.Gly18020Asp	CA140115 NM_001256850.1:c.54059G>A