Allele Registry

Canonical Allele Identifier: PA191187

Gene: ATM HGNC NCBI

ClinVar Allele:

183147

ClinVar RCV:

RCV000164527

RCV000589044

RCV000627916

RCV002247566

ClinVar Variation:

185158

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