Canonical Allele Identifier: PA294396
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 142433
ClinVar RCV Id: RCV000131552 RCV000168391 RCV000235099 RCV000515383 RCV001357286 RCV001199851 RCV003462015 RCV004551263
ClinVar Variation Id: 861269
ClinVar RCV Id: RCV001067758
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Trp488Cys
CA294394
NM_000051.4:c.1464G>T
CA382534152
NM_000051.4:c.1464G>C