ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828084263
Gene: RBM48
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2050924
ClinVar RCV Id:
RCV002922154
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350295.1:p.Ile316Met
CA161987317
NM_001363366.1:c.948C>G