ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032929
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
824542
ClinVar RCV Id:
RCV001021759
RCV003605712
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.His1352Tyr
CA382527965
NM_001351834.2:c.4054C>T