ClinGen Allele Registry
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Canonical Allele Identifier:
PA916033258
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135757
ClinVar RCV Id:
RCV000122854
RCV000129349
RCV000587947
RCV002223131
RCV004551198
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.His1624Arg
CA294028
NM_001351834.2:c.4871A>G