ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825035382
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1518401
ClinVar RCV Id:
RCV002021718
RCV002386929
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Lys2421Arg
CA382559747
NM_000051.4:c.7262A>G