ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830194638
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000539660
RCV000609462
RCV003139794
ClinVar Variation:
467137
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Ala11347Val
CA1996214
NM_133378.4:c.34040C>T