ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033079
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
220998
ClinVar RCV Id:
RCV000204593
RCV000575393
RCV003235130
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.His1474Asn
CA348817
NM_001351834.2:c.4420C>A