Canonical Allele Identifier: PA916033054
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 127386
ClinVar RCV Id: RCV000115191 RCV000212012 RCV001080906 RCV001257478 RCV001193007
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Lys1454Asn
CA286843
NM_001351834.2:c.4362A>C
CA382532053
NM_001351834.2:c.4362A>T