ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830197070
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
515667
ClinVar RCV Id:
RCV000613768
RCV001133053
RCV001133054
RCV001133055
RCV001133056
RCV001132127
RCV003139925
RCV003486894
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Arg17277His
CA1992652
NM_133378.4:c.51830G>A