ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913191661
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
633052
ClinVar RCV Id:
RCV000780884
RCV003480812
RCV003500600
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile1476Val
CA382532274
NM_000051.4:c.4426A>G