Canonical Allele Identifier: PA157115
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 133618
ClinVar RCV Id: RCV000120136 RCV000129195 RCV000657024 RCV001355120 RCV001079506 RCV004551178 RCV003492517
ClinVar Variation Id: 1590196
ClinVar RCV Id: RCV002107358
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Met1321Ile
CA157113
NM_000051.4:c.3963G>A
CA382526091
NM_000051.4:c.3963G>C
CA382526098
NM_000051.4:c.3963G>T