ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826496240
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000617443
RCV000871034
RCV001473643
RCV004533274
ClinVar Variation:
518970
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Val14419Ile
CA1995904
NM_001267550.2:c.43255G>A