ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830197431
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000184691
RCV000229909
RCV001134248
RCV001134249
RCV001134250
RCV001135742
RCV001135743
RCV001171288
RCV002453679
ClinVar Variation:
202761
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Ala18241Thr
CA310203
NM_133378.4:c.54721G>A