Allele Registry

Canonical Allele Identifier: PA157078

Gene: ATM HGNC NCBI

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000120123

RCV000129054

RCV000206885

RCV001357064

RCV001573497

RCV002225357

RCV002492417

RCV003149819

RCV003315723

ClinVar Variation:

133607

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Asp814Glu	CA157076 NM_000051.4:c.2442C>A CA382541337 NM_000051.4:c.2442C>G