ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830222523
Gene: TTN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000184934
RCV000643904
RCV000725754
RCV002354514
ClinVar Variation:
202948
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Leu20559Arg
CA310778
NM_133432.3:c.61676T>G