ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828084254
Gene: RBM48
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003114758
ClinVar Variation:
2417289
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350295.1:p.His237Arg
CA4341915
NM_001363366.1:c.710A>G