ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830241568
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000220297
RCV000470440
RCV000731446
RCV002381748
RCV003448290
ClinVar Variation:
229558
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Arg24593His
CA1986033
NM_133437.4:c.73778G>A