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: PA2830191872

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 12658

ClinVar RCV Id: RCV000013494 RCV000733710 RCV001089351

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_596869.4:p.Ser3536Asn	CA256521 NM_133378.4:c.10607G>A