ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA201460
Gene: CUL7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_055595.2:p.Arg1164Trp
NM_014780.4:c.3490C>T