ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031781
Gene: ATM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Cys489Phe
CA6264817
NM_001351834.2:c.1466G>T