ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830221094
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000554115
RCV002506349
RCV003139830
RCV003486872
ClinVar Variation:
467538
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Arg18276His
CA1989175
NM_133432.3:c.54827G>A