ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915954329
Gene: CHEK2
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001005735.1:p.Val438Ile
NM_001005735.2:c.1312G>A