Allele Registry

Canonical Allele Identifier: PA286893

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000115212

RCV001066748

RCV001181368

ClinVar Variation:

127407

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Pro1785Ala	CA286891 NM_000051.4:c.5353C>G