Canonical Allele Identifier: PA916033039
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 127385
ClinVar RCV Id: RCV000115190 RCV000168302 RCV000586538 RCV000855627 RCV000515173 RCV001355810 RCV001257491 RCV003149793 RCV003482131 RCV004549551
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Tyr1442His
CA286840
NM_001351834.2:c.4324T>C