Allele Registry

Canonical Allele Identifier: PA658742749

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000584389

RCV000627881

ClinVar Variation:

490617

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.His1876Gln	CA382546372 NM_000051.4:c.5628C>A CA382546374 NM_000051.4:c.5628C>G