ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA157173
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133633
ClinVar RCV Id:
RCV000120158
RCV000465515
RCV000561937
RCV000587034
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asn2586Ser
CA157171
NM_000051.4:c.7757A>G