ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825239151
Gene: UBASH3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2604599
ClinVar RCV Id:
RCV004350608
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001001895.1:p.Val254Met
CA10043249
NM_001001895.3:c.760G>A