Canonical Allele Identifier: PA157167
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 133631
ClinVar RCV Id: RCV000120156 RCV000128891 RCV000224405 RCV001357692 RCV002221490 RCV001798379 RCV002225365 RCV001080466 RCV002483213
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Leu2332Pro
CA157165
NM_000051.4:c.6995T>C