Canonical Allele Identifier: PA658673510
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 453684
ClinVar RCV Id: RCV000540986 RCV000580624 RCV001267945 RCV003470684 RCV003151081
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Arg248Leu
CA382529260
NM_000051.4:c.743G>T