ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830233805
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000221791
RCV000462190
RCV000725480
RCV001170813
RCV002453682
ClinVar Variation:
202776
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Arg12320Cys
CA310252
NM_133437.4:c.36958C>T