Allele Registry

Canonical Allele Identifier: PA3057505056

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV005143646

ClinVar Variation:

3663260

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Asn1784Lys	CA382543267 NM_001351834.2:c.5352C>A CA382543268 NM_001351834.2:c.5352C>G