ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830220064
Gene: TTN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000176801
RCV000643115
RCV001001233
RCV002503677
ClinVar Variation:
196072
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Ile16579Thr
CA242838
NM_133432.3:c.49736T>C