Allele Registry

Canonical Allele Identifier: PA192111

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000164935

RCV002516471

RCV003468725

ClinVar Variation:

185495

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Asp2650Asn	CA192109 NM_000051.4:c.7948G>A