Canonical Allele Identifier: PA192996
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 185802
ClinVar RCV Id: RCV000165292 RCV000466714
ClinVar Variation Id: 864266
ClinVar RCV Id: RCV001071406 RCV002402486 RCV004526079
ClinVar Variation Id: 1172872
ClinVar RCV Id: RCV001526962 RCV002414249 RCV002568855
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Met563Ile
CA192994
NM_000051.4:c.1689G>A
CA382535200
NM_000051.4:c.1689G>C
CA382535202
NM_000051.4:c.1689G>T