ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916035246
Gene: ATM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338765.1:p.Pro80Ser
CA6264539
NM_001351836.2:c.238C>T