ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA141725
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
47686
ClinVar RCV Id:
RCV000040955
RCV000230763
RCV001697033
RCV002381322
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596870.2:p.Val3250Gly
CA141720
NM_133379.5:c.9749T>G