Canonical Allele Identifier: PA340954
Gene: UBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9781
ClinVar RCV Id: RCV000010435
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_695012.1:p.Ser547Gly
CA340953
NM_153280.3:c.1639A>G