Allele Registry

Canonical Allele Identifier: PA916033307

Gene: ATM HGNC NCBI

ClinVar Allele:

475886

ClinVar RCV:

RCV000568872

RCV000812463

RCV001538998

RCV001764634

ClinVar Variation:

479007

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ile1659Val	CA6265589 NM_001351834.2:c.4975A>G