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: PA2830204036

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 1930408

ClinVar RCV Id: RCV002645743

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_596869.4:p.Arg32270Lys	CA349411497 NM_133378.4:c.96809G>A