Allele Registry

Canonical Allele Identifier: PA916031790

Gene: ATM HGNC NCBI

ClinVar Allele:

183147

ClinVar RCV:

RCV000164527

RCV000589044

RCV000627916

RCV002247566

ClinVar Variation:

185158

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ile495Val	CA191185 NM_001351834.2:c.1483A>G