ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA248823
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
212474
ClinVar RCV Id:
RCV000192710
RCV000464720
RCV001697236
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Val16457Ile
CA248822
NM_133378.4:c.49369G>A