ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA178742
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
165979
ClinVar RCV Id:
RCV000152312
RCV000553364
RCV000714052
RCV001170605
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Arg18023Gln
CA178740
NM_001267550.2:c.54068G>A