ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825032289
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1727703
ClinVar RCV Id:
RCV002326043
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ser1037_Met1040delinsLys
CA2580083290
NM_000051.4:c.3108_3119delinsTAA