Canonical Allele Identifier: PA913191648
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 629637
ClinVar RCV Id: RCV000774347 RCV001856086
ClinVar Variation Id: 2568149
ClinVar RCV Id: RCV003283515
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Val1344Leu
CA382527704
NM_000051.4:c.4030G>C
CA382527707
NM_000051.4:c.4030G>T