ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826698916
Gene: IQCE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3110421
ClinVar RCV Id:
RCV004400836
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274431.1:p.Arg494Gln
CA4129409
NM_001287502.2:c.1481G>A