ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA179018
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166232
ClinVar RCV Id:
RCV000152415
RCV000770107
RCV000465956
RCV001538746
RCV002362801
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Glu4428Lys
CA179016
NM_001267550.2:c.13282G>A