ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830216247
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
191937
ClinVar RCV Id:
RCV000172304
RCV000463568
RCV003448276
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Ile10141Thr
CA237918
NM_133432.3:c.30422T>C