ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741995965
Gene: RBM48
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2778566
ClinVar RCV Id:
RCV003661561
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115496.2:p.Glu124Gln
CA368208905
NM_032120.3:c.370G>C