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: PA2830225060

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 467712

ClinVar RCV Id: RCV000536222 RCV000621057

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_597676.3:p.Leu24250Arg	CA349427936 NM_133432.3:c.72749T>G