Canonical Allele Identifier: PA351621
Gene: PUS1 HGNC NCBI
ClinVar RCV:
RCV000207447
ClinVar Variation:
221982
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079491.2:p.Arg295Trp
CA351619
NM_025215.6:c.883C>T