ClinGen Allele Registry
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Canonical Allele Identifier:
PA645498894
Gene: ATM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000042.3:p.Lys293Ter
NM_000051.4:c.[873del;876G>C;878A>T]
NM_000051.4:c.[873del;876G>C;878A>T;880G>...
NM_000051.4:c.[873del;876G>C;878A>T;880G=...
NM_000051.4:c.877A>T