Canonical Allele Identifier: PA2825033140
Gene: ATM HGNC NCBI
ClinVar RCV:
RCV003606268
ClinVar Variation:
2818554
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Leu1420Val
CA382531126
NM_000051.4:c.4258C>G