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: PA2826425267

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 1753458

ClinVar RCV Id: RCV002361701

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243779.1:p.Gly28848Val	CA1987630 NM_001256850.1:c.86543G>T