Canonical Allele Identifier: PA658670080
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 481151
ClinVar RCV Id: RCV000574749
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Ser2289Phe
CA382556755
NM_000051.4:c.6866C>T