Canonical Allele Identifier: PA658742529
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 495393
ClinVar RCV Id: RCV000588963

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Phe1786Leu
CA382543291
NM_000051.4:c.5356T>C
CA382543311
NM_000051.4:c.5358T>A
CA382543316
NM_000051.4:c.5358T>G