ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580474935
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_115496.2:p.Ile316Met
CA161987317
NM_032120.3:c.948C>G