ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645498530
Gene: IQSEC2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001104595.1:p.Arg609Cys
NM_001111125.3:c.1825C>T