ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829431304
Gene: TTN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000152478
RCV000540226
RCV001293078
RCV001719943
ClinVar Variation:
166293
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003310.4:p.Thr3249Met
CA179196
NM_003319.4:c.9746C>T