ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032616
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
481334
ClinVar RCV Id:
RCV000566290
RCV001858173
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Gln1098Glu
CA382517285
NM_001351834.2:c.3292C>G