Allele Registry

Canonical Allele Identifier: PA916033463

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000628117

ClinVar Variation:

524376

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Pro1785His	CA382543281 NM_001351834.2:c.5354C>A