Canonical Allele Identifier: PA658736456
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 490603
ClinVar RCV Id: RCV000583345 RCV001347772
ClinVar Variation Id: 618539
ClinVar RCV Id: RCV000757012 RCV000810049 RCV001805837
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Phe168Leu
CA382527432
NM_000051.4:c.502T>C
CA382527453
NM_000051.4:c.504C>A
CA382527455
NM_000051.4:c.504C>G