ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827497250
Gene: USP48
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161781
ClinVar RCV Id:
RCV000149317
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337097.1:p.Met415Val
CA174773
NM_001350168.2:c.1243A>G