ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499239059
Gene: RBM20
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1194288
ClinVar RCV Id:
RCV001556967
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001127835.2:p.Arg794Thr
CA378373644
NM_001134363.3:c.2381G>C