Allele Registry

Canonical Allele Identifier: PA151919

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000116422

RCV000119131

RCV000128903

RCV000710664

RCV003315661

ClinVar Variation:

128454

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Ser707Pro	CA151917 NM_000051.4:c.2119T>C