Canonical Allele Identifier: PA645504520
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 230416
ClinVar RCV Id: RCV001526927 RCV003469000 RCV003441794 RCV000223476 RCV000347894 RCV001030605 RCV003491969
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Lys2749Ile
CA6266322
NM_000051.4:c.8246A>T