ClinGen Allele Registry
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Canonical Allele Identifier:
PA121145
Gene: HUWE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_113584.3:p.Arg4187Cys
CA121144
NM_031407.7:c.12559C>T