ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580203960
Gene: ATM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.His1380Asp
CA382529894
NM_001351834.2:c.4138C>G