ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031918
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181921
ClinVar RCV Id:
RCV000159686
RCV000211969
RCV000462248
RCV000780876
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ile598Val
CA298147
NM_001351834.2:c.1792A>G