ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828084248
Gene: RBM48
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2057097
ClinVar RCV Id:
RCV002923179
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350295.1:p.Cys180Arg
CA4341892
NM_001363366.1:c.538T>C