ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830195863
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000216081
RCV000253790
RCV000725245
RCV000852848
RCV001085087
ClinVar Variation:
229449
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Pro14352Ala
CA1994319
NM_133378.4:c.43054C>G