ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA166342
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141763
ClinVar RCV Id:
RCV000130397
RCV000168097
RCV000485729
RCV000515251
RCV000779792
RCV003492600
RCV001356743
RCV003467147
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Met946Val
CA166340
NM_000051.4:c.2836A>G