Allele Registry

Canonical Allele Identifier: PA916033647

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000159768

RCV000218056

RCV000463126

RCV003462077

ClinVar Variation:

181999

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ala1942Val	CA298365 NM_001351834.2:c.5825C>T