ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA139143
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
46762
ClinVar RCV Id:
RCV000040032
RCV000172686
RCV000853460
RCV001081212
RCV001132881
RCV001132882
RCV001136308
RCV001136310
RCV001136309
RCV003149643
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Ser7296Phe
CA139141
NM_133378.4:c.21887C>T