ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA139956
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
47083
ClinVar RCV Id:
RCV000040353
RCV000245658
RCV000231268
RCV000770009
RCV001131772
RCV001131771
RCV001131773
RCV001131774
RCV001132763
RCV001293198
RCV001705688
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Arg15482Cys
CA139954
NM_133378.4:c.46444C>T