ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645421558
Gene: RERE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_036234.3:p.His1429Arg
NM_012102.4:c.4286A>G