ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825034128
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1380210
ClinVar RCV Id:
RCV001917162
RCV002255695
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.His1865Asn
CA228389817
NM_000051.4:c.5593C>A