Canonical Allele Identifier: PA916031994
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 489520
ClinVar RCV Id: RCV000579492

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Phe657Leu
CA382536815
NM_001351834.2:c.1969T>C
CA382536826
NM_001351834.2:c.1971T>A
CA382536828
NM_001351834.2:c.1971T>G