Allele Registry

Canonical Allele Identifier: PA645500642

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000460079

RCV000581722

RCV003153614

RCV003470413

ClinVar Variation:

407468

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Glu699Gln	CA16613085 NM_000051.4:c.2095G>C