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: PA2826427002

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 404954

ClinVar RCV Id: RCV000472229

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243779.1:p.Thr31531Asn	CA16610290 NM_001256850.1:c.94592C>A