ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826419224
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000613768
RCV001132127
RCV001133053
RCV001133054
RCV001133055
RCV001133056
RCV003139925
RCV003486894
ClinVar Variation:
515667
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243779.1:p.Arg18204His
CA1992652
NM_001256850.1:c.54611G>A