ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830190982
Gene: TTN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000542098
RCV001704944
RCV002327010
RCV003150077
ClinVar Variation:
203129
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Ala1430Glu
CA311349
NM_133378.4:c.4289C>A