Allele Registry

Canonical Allele Identifier: PA916031421

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000221484

RCV000227220

RCV000474412

RCV000485993

RCV000582502

RCV000589106

ClinVar Variation:

233153

236758

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Lys224Asn	CA6264664 NM_001351834.2:c.672G>T CA6264665 NM_001351834.2:c.672G>C