Allele Registry

Canonical Allele Identifier: PA189658

Gene: ATM HGNC NCBI

ClinVar Variation Id: 184674

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Phe172Leu	CA189656 NM_000051.4:c.514T>C CA382527511 NM_000051.4:c.516C>A CA382527512 NM_000051.4:c.516C>G