ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA248698
Gene: ATM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000042.3:p.Leu1420Phe
NM_000051.4:c.4258C>T