Allele Registry

Canonical Allele Identifier: PA645497632

Gene: ATM HGNC NCBI

ClinVar Allele:

233886

ClinVar RCV:

RCV000219832

RCV000536856

ClinVar Variation:

229721

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.His17Asn	CA6264501 NM_000051.4:c.49C>A