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: PA2829441892

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_003310.4:p.Gly21424Val	CA1987630 NM_003319.4:c.64271G>T