ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830197237
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
516826
ClinVar RCV Id:
RCV000609383
RCV000868058
RCV002271537
RCV002457958
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Ala17758Thr
CA1992418
NM_133378.4:c.53272G>A