ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830243143
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000040952
RCV000228793
RCV000275138
RCV000330183
RCV000333536
RCV000369582
RCV000383536
RCV000620982
RCV001081694
RCV001170285
ClinVar Variation:
47683
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Arg26170Cys
CA141711
NM_133437.4:c.78508C>T