ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA192477
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135739
ClinVar RCV Id:
RCV000122828
RCV000165083
RCV000254742
RCV001354480
RCV003320097
RCV003467083
RCV003492531
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Gln654Lys
CA192475
NM_000051.4:c.1960C>A