ClinGen Allele Registry
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Canonical Allele Identifier:
PA310129
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
202736
ClinVar RCV Id:
RCV000184656
ClinVar Variation Id:
467313
ClinVar RCV Id:
RCV000536342
RCV001798886
RCV000619409
RCV001311243
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243779.1:p.Asp17849Glu
CA310128
NM_001256850.1:c.53547T>G
CA1992846
NM_001256850.1:c.53547T>A