Canonical Allele Identifier: PA916032692
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 230990
ClinVar RCV Id: RCV000218210 RCV000221290 RCV000474968 RCV000780901 RCV002288862
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Val1160Leu
CA6265298
NM_001351834.2:c.3478G>C
CA382519481
NM_001351834.2:c.3478G>T