Allele Registry

Canonical Allele Identifier: PA1139734720

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV001052391

ClinVar Variation:

848601

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ser712Leu	CA382538677 NM_001351834.2:c.2135C>T