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: PA2830191804

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 332937

ClinVar RCV Id: RCV000269589 RCV000282834 RCV000321505 RCV000327007 RCV000371165

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_596869.4:p.Asp3397Glu	CA2004154 NM_133378.4:c.10191C>A CA349673502 NM_133378.4:c.10191C>G