ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031732
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
407670
ClinVar RCV Id:
RCV000463733
RCV000566799
RCV000481180
RCV001821250
RCV001535667
RCV003470435
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg451His
CA6264804
NM_001351834.2:c.1352G>A