ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830235633
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
501630
ClinVar RCV Id:
RCV000596464
RCV000643217
RCV000764317
RCV003150295
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Leu15247Phe
CA1990511
NM_133437.4:c.45739C>T