ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645505398
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
407465
ClinVar RCV Id:
RCV000458489
RCV000570991
RCV001562827
RCV002506118
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Glu2936Gln
CA16613178
NM_000051.4:c.8806G>C