Canonical Allele Identifier: PA916032195
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 220178
ClinVar RCV Id: RCV000205560 RCV001358330 RCV003468944 RCV002453740
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Ser821Arg
CA349704
NM_001351834.2:c.2463T>G
CA382541397
NM_001351834.2:c.2461A>C
CA382541416
NM_001351834.2:c.2463T>A