Canonical Allele Identifier: PA2829450769
Gene: UBA1 HGNC NCBI
ClinVar RCV:
RCV001514718
ClinVar Variation:
1166449
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003325.2:p.Glu32Lys
CA10395591
NM_003334.4:c.94G>A