ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA353754
Gene: MRE11
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_005581.2:p.Glu506Ter
NM_005590.4:c.1516G>T