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: PA658812694

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 501805

ClinVar RCV Id: RCV000595832

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001254479.2:p.Ser5310Asn	CA60980226 NM_001267550.2:c.15929G>A