Canonical Allele Identifier: PA2499251036
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 1015046
ClinVar RCV Id: RCV001313860
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Leu2557Phe
CA382560972
NM_001351834.2:c.7671G>C
CA382560973
NM_001351834.2:c.7671G>T