Canonical Allele Identifier: PA913191589
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 631294
ClinVar RCV Id: RCV000777468 RCV001369013
ClinVar Variation Id: 1473322
ClinVar RCV Id: RCV002005223
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Met949Ile
CA382546705
NM_000051.4:c.2847G>A
CA382546706
NM_000051.4:c.2847G>C
CA382546709
NM_000051.4:c.2847G>T