ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830234922
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000457085
RCV000608680
RCV000727783
RCV002329022
ClinVar Variation:
404970
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Ala14142Val
CA1990999
NM_133437.4:c.42425C>T