Allele Registry

Canonical Allele Identifier: PA286977

Gene: ATM HGNC NCBI

Linked Data - NCBI & NCI

ClinVar Allele:

132897

ClinVar RCV:

RCV000115246

RCV000200256

RCV000515201

RCV000589408

RCV001260260

RCV001354272

RCV002225326

RCV004549569

ClinVar Variation:

127440

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Thr2438Ile	CA286975 NM_000051.4:c.7313C>T