Canonical Allele Identifier: PA2825032991
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 1737311
ClinVar RCV Id: RCV002321230
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Leu1348Phe
CA382527799
NM_000051.4:c.4044G>C
CA382527801
NM_000051.4:c.4044G>T