ClinGen Allele Registry
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Canonical Allele Identifier:
PA916032041
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
481065
ClinVar RCV Id:
RCV000567410
RCV000678465
RCV001343069
RCV001764649
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg692Leu
CA382537546
NM_001351834.2:c.2075G>T