ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645474179
Gene: HUWE1
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_113584.3:p.Leu2356Phe
NM_031407.7:c.7066C>T