ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913201227
Gene: RBM20
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001127835.2:p.Glu353Lys
CA5688551
NM_001134363.3:c.1057G>A