Canonical Allele Identifier: PA645474203
Gene: HUWE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 375718
ClinVar RCV Id: RCV000498781 RCV001547214 RCV002318372
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_113584.3:p.Arg4023Cys
CA413155445
NM_031407.7:c.12067C>T