Allele Registry

Canonical Allele Identifier: PA194950

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000166084

RCV000168218

RCV002272149

RCV003316050

ClinVar Variation:

186482

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Leu2866Val	CA194948 NM_000051.4:c.8596C>G