ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830196645
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467289
ClinVar RCV Id:
RCV000555385
RCV000597681
RCV000727403
RCV003150266
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Arg16216His
CA1993265
NM_133378.4:c.48647G>A