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: PA2829439788

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 332761

ClinVar RCV Id: RCV000261667 RCV000315436 RCV000319078 RCV000354170 RCV000368850

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003310.4:p.Gly18110Ser	CA1989198 NM_003319.4:c.54328G>A