Canonical Allele Identifier: PA913191746
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 628285
ClinVar RCV Id: RCV000772700 RCV000817341
ClinVar Variation Id: 826819
ClinVar RCV Id: RCV001026004 RCV001832363 RCV003461412
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Met2357Ile
CA6266055
NM_000051.4:c.7071G>A
CA382559098
NM_000051.4:c.7071G>C
CA382559100
NM_000051.4:c.7071G>T