ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580155409
Gene: RBM20
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2169360
ClinVar RCV Id:
RCV003084784
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001127835.2:p.Ser793Asn
CA378373627
NM_001134363.3:c.2378G>A