ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033199
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142472
ClinVar RCV Id:
RCV000131606
RCV000167871
RCV000480209
RCV001798455
RCV001355688
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.His1568Arg
CA168443
NM_001351834.2:c.4703A>G