ClinGen Allele Registry
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Canonical Allele Identifier:
PA091806
Gene: ATM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ser2855Arg
CA6266378
NM_000051.4:c.8565T>A
CA6266379
NM_000051.4:c.8565T>G
CA382518596
NM_000051.4:c.8563A>C