Canonical Allele Identifier: PA913191699
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 629859
ClinVar RCV Id: RCV000774650

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Ile1806Leu
CA382543863
NM_000051.4:c.5416A>C
CA382543867
NM_000051.4:c.5416A>T