Canonical Allele Identifier: PA658673595
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 481327
ClinVar RCV Id: RCV000562721
ClinVar Variation Id: 485229
ClinVar RCV Id: RCV000570204 RCV003767218
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Phe336Leu
CA382531392
NM_000051.4:c.1006T>C
CA382531405
NM_000051.4:c.1008T>A
CA382531408
NM_000051.4:c.1008T>G