Allele Registry

Canonical Allele Identifier: PA2499250856

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV001373596

ClinVar Variation:

1063730

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Asp2721Glu	CA382562478 NM_001351834.2:c.8163C>A CA382562479 NM_001351834.2:c.8163C>G