Canonical Allele Identifier: PA3063618108
Gene: UBA1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003325.2:p.Val578Leu
CA412802205
NM_003334.4:c.1732G>C
CA412802208
NM_003334.4:c.1732G>T