ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825239146
Gene: UBASH3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2258337
ClinVar RCV Id:
RCV004115145
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001001895.1:p.Ala177Thr
CA10043109
NM_001001895.3:c.529G>A