Allele Registry

Canonical Allele Identifier: PA157118

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000120137

RCV000128897

RCV000284881

RCV000710672

RCV002225360

RCV003149821

RCV003315726

ClinVar Variation:

133619

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.His1380Tyr	CA157116 NM_000051.4:c.4138C>T