ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830206847
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000548592
RCV000768919
RCV001130054
RCV001130055
RCV001130056
RCV001130057
RCV001130058
RCV001555582
ClinVar Variation:
467506
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Tyr23349His
CA1989717
NM_133378.4:c.70045T>C