ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830221448
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000040693
RCV000725532
RCV001087252
RCV002345322
RCV003149659
RCV004534934
ClinVar Variation:
47423
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Pro18827Thr
CA140951
NM_133432.3:c.56479C>A