ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827630052
Gene: ATM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338764.1:p.Ser49Cys
CA202190
NM_001351835.2:c.146C>G