ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580480570
Gene: HUWE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1801872
ClinVar RCV Id:
RCV002464691
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_113584.3:p.Arg4293His
CA413144992
NM_031407.7:c.12878G>A