Canonical Allele Identifier: PA916032968
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 127382
ClinVar RCV Id: RCV000115187 RCV000212009 RCV000459643 RCV000780883 RCV002251983 RCV001354350 RCV003474711 RCV004549550
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Ser1383Leu
CA286831
NM_001351834.2:c.4148C>T