ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA194453
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186315
ClinVar RCV Id:
RCV000165890
RCV000458599
RCV001770130
RCV003153448
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.His2430Arg
CA194451
NM_000051.4:c.7289A>G