ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658801059
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
524383
ClinVar RCV Id:
RCV000628132
RCV001189987
RCV003162775
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ser363Phe
CA382532358
NM_000051.4:c.1088C>T