Canonical Allele Identifier: PA2828084242
Gene: RBM48 HGNC NCBI
ClinVar RCV:
RCV003661561
ClinVar Variation:
2778566
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350295.1:p.Glu124Gln
CA368208905
NM_001363366.1:c.370G>C