Allele Registry

Canonical Allele Identifier: PA916031702

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000164384

RCV000218574

RCV000526201

RCV001193062

RCV003467294

ClinVar Variation:

185031

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Pro424His	CA190822 NM_001351834.2:c.1271C>A