ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139729252
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
827188
ClinVar RCV Id:
RCV001026697
RCV001862379
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ile2560del
CA915948294
NM_001351834.2:c.7677_7679del