ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830234910
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000538225
RCV000601528
RCV001130429
RCV001131146
RCV001131147
RCV001131148
RCV001131149
RCV002330890
ClinVar Variation:
467415
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Thr14121Ile
CA1991008
NM_133437.4:c.42362C>T