ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139750519
Gene: HUWE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
977636
ClinVar RCV Id:
RCV001255418
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_113584.3:p.Ile4136Met
CA413150073
NM_031407.7:c.12408C>G