ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034272
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3023
ClinVar RCV Id:
RCV000003160
RCV000003161
RCV000003159
RCV000115244
RCV000168223
RCV000212060
RCV000417259
RCV000515429
RCV000709707
RCV003149562
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Val2424Gly
CA115930
NM_001351834.2:c.7271T>G