ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031355
Gene: ATM
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001338763.1:p.Val182Leu
NM_001351834.2:c.544G>C