Canonical Allele Identifier: PA191187
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 185158
ClinVar RCV Id: RCV000164527 RCV000627916 RCV000589044 RCV002247566
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Ile495Val
CA191185
NM_000051.4:c.1483A>G