ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA197340
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187317
ClinVar RCV Id:
RCV000167036
RCV000526903
RCV003156228
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile3040Thr
CA197338
NM_000051.4:c.9119T>C