ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830236040
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000184814
RCV001129080
RCV001129081
RCV001136046
RCV001136047
RCV001136048
RCV002336487
RCV003137736
ClinVar Variation:
202856
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Thr15982Ile
CA310496
NM_133437.4:c.47945C>T