Canonical Allele Identifier: PA2826201470
Gene: USB1 HGNC NCBI
ClinVar RCV:
RCV003734085
ClinVar Variation:
2906301
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182231.1:p.Met116Arg
CA396129119
NM_001195302.2:c.347T>G