ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645474219
Gene: HUWE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
372628
ClinVar RCV Id:
RCV000414013
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_113584.3:p.Leu4227Ser
CA16043268
NM_031407.7:c.12680T>C