ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031731
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185437
ClinVar RCV Id:
RCV000164863
RCV000200270
RCV000235327
RCV004552897
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg451Cys
CA191951
NM_001351834.2:c.1351C>T