ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916064316
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467149
ClinVar RCV Id:
RCV000528780
RCV001591239
RCV002330889
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Glu143Lys
CA2006320
NM_133437.4:c.427G>A