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: PA2830197223

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 1730619

ClinVar RCV Id: RCV002321087

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_596869.4:p.Pro17704Ser	CA60968658 NM_133378.4:c.53110C>T