Canonical Allele Identifier: PA916033044
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 407692
ClinVar RCV Id: RCV000463652 RCV000571114 RCV001559952
ClinVar Variation Id: 2158834
ClinVar RCV Id: RCV003079931 RCV003358086
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Phe1445Leu
CA6265437
NM_001351834.2:c.4335T>G
CA16613352
NM_001351834.2:c.4333T>C
CA382531926
NM_001351834.2:c.4335T>A