ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033723
Gene: ATM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ser2000Asn
CA6265813
NM_001351834.2:c.5999G>A