Canonical Allele Identifier: PA2499251209
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 1038712
ClinVar RCV Id: RCV001342054
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338765.1:p.Ile77Leu
CA382521452
NM_001351836.2:c.229A>C
CA382521456
NM_001351836.2:c.229A>T