ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA238262
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
192076
ClinVar RCV Id:
RCV000172468
RCV000279091
RCV000282750
RCV000336583
RCV000375953
RCV000379439
RCV000540799
RCV002362888
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Glu2195Gly
CA238259
NM_133378.4:c.6584A>G