ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645461601
Gene: ESCO2
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001017420.1:p.Arg365Lys
NM_001017420.3:c.1094G>A