ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826418830
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000549854
RCV000600882
RCV000852838
RCV001281441
RCV002438407
ClinVar Variation:
467299
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243779.1:p.Val17483Ile
CA1993058
NM_001256850.1:c.52447G>A