ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830192779
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283979
ClinVar RCV Id:
RCV000290753
RCV000469081
RCV000725369
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Ala5986Val
CA2000967
NM_133378.4:c.17957C>T