ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830218066
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000152250
RCV000229659
RCV000733490
RCV001132863
RCV001132864
RCV001132865
RCV001132866
RCV001136277
RCV002372001
ClinVar Variation:
165887
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Lys13224Ile
CA178593
NM_133432.3:c.39671A>T