Allele Registry

Canonical Allele Identifier: PA286915

Gene: ATM HGNC NCBI

Linked Data - NCBI & NCI

ClinVar Allele:

132872

ClinVar RCV:

RCV000115220

RCV000122863

RCV000212036

RCV000515391

RCV000588284

RCV001358376

RCV003482132

RCV003492461

RCV003492462

RCV004549560

ClinVar Variation:

127415

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Lys1992Thr	CA286913 NM_000051.4:c.5975A>C