Allele Registry

Canonical Allele Identifier: PA157088

Gene: ATM HGNC NCBI

Linked Data

ClinVar RCV:

RCV000119188

RCV000120127

RCV000131019

RCV000415872

RCV001357283

RCV001509655

RCV001568359

RCV001798374

RCV002225352

ClinVar Variation:

132736

1164123

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Phe858Leu	CA157086 NM_000051.4:c.2572T>C CA382543878 NM_000051.4:c.2574T>A CA382543881 NM_000051.4:c.2574T>G