Canonical Allele Identifier: PA294448
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 135765
ClinVar RCV Id: RCV000122869 RCV000212041 RCV000131768 RCV000779793
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Arg2060His
CA294446
NM_000051.4:c.6179G>A