Canonical Allele Identifier: PA916031896
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 127342
ClinVar RCV Id: RCV000115146 RCV000120118 RCV000122822 RCV000588398 RCV001269378 RCV001798308 RCV003315634
ClinVar Variation Id: 482674
ClinVar RCV Id: RCV000562559 RCV001520425
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Phe582Leu
CA151457
NM_001351834.2:c.1744T>C
CA382535347
NM_001351834.2:c.1746C>A
CA382535349
NM_001351834.2:c.1746C>G