Canonical Allele Identifier: PA338718
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 216206
ClinVar RCV Id: RCV000199552 RCV000567335 RCV001555609 RCV003462317
ClinVar Variation Id: 1735442
ClinVar RCV Id: RCV002355447 RCV003605796 RCV003464458
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Ser1281Arg
CA338716
NM_000051.4:c.3843T>G
CA382525128
NM_000051.4:c.3841A>C
CA382525140
NM_000051.4:c.3843T>A