ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828084232
Gene: RBM48
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1435189
ClinVar RCV Id:
RCV001984820
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350295.1:p.Arg24Trp
CA161982375
NM_001363366.1:c.70C>T