ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830221075
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
404875
ClinVar RCV Id:
RCV000467896
RCV000620057
RCV000605477
RCV000768914
RCV003139622
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Arg18236Leu
CA1989195
NM_133432.3:c.54707G>T