ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830218140
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
332801
ClinVar RCV Id:
RCV000292327
RCV000296488
RCV000349639
RCV000392847
RCV000387880
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Pro13318Ser
CA1991433
NM_133432.3:c.39952C>T