ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA138991
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000039966
RCV000643520
RCV001573334
RCV002477118
RCV003319175
RCV003486574
ClinVar Variation:
46696
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243779.1:p.Arg7047Trp
CA138988
NM_001256850.1:c.21139C>T