ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645503621
Gene: ATM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Glu2039Val
CA16616706
NM_000051.4:c.6116A>T