Canonical Allele Identifier: PA916031543
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 220453
ClinVar RCV Id: RCV000204232 RCV000234905 RCV000486900 RCV001818502 RCV003468951
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Tyr316His
CA348479
NM_001351834.2:c.946T>C