ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573203786
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1484028
ClinVar RCV Id:
RCV002028189
RCV002361347
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Glu2245Lys
CA382555149
NM_001351834.2:c.6733G>A