Canonical Allele Identifier: PA294467
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 142700
ClinVar RCV Id: RCV000132066 RCV000169105 RCV000212079 RCV000709709 RCV001640164 RCV002285144 RCV003128150 RCV003492629 RCV004551268 RCV003318553
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Val2716Ala
CA294465
NM_000051.4:c.8147T>C