Canonical Allele Identifier: PA916031392
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 127419
ClinVar RCV Id: RCV000115224 RCV000122868 RCV000235097 RCV000764935 RCV001535620 RCV001193006 RCV003335103 RCV001798321 RCV004549561
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Gly204Arg
CA286922
NM_001351834.2:c.610G>A
CA382528200
NM_001351834.2:c.610G>C