Allele Registry

Canonical Allele Identifier: PA339438

Gene: ATM HGNC NCBI

ClinVar Allele:

212900

ClinVar RCV:

RCV000200616

RCV000567702

RCV001582694

RCV003468901

ClinVar Variation:

216228

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Asn2282Ser	CA339436 NM_000051.4:c.6845A>G