Canonical Allele Identifier: PA916033759
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 407664
ClinVar RCV Id: RCV000482625 RCV000472781 RCV001024865
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Met2026Ile
CA6265843
NM_001351834.2:c.6078G>A
CA382550136
NM_001351834.2:c.6078G>T
CA382550138
NM_001351834.2:c.6078G>C