ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830192229
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
504547
ClinVar RCV Id:
RCV000611089
RCV000727862
RCV000643455
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Glu4462Lys
CA2001913
NM_133378.4:c.13384G>A