ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645503193
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
230134
ClinVar RCV Id:
RCV000222750
RCV000674622
RCV001030596
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ala1812Val
CA10579181
NM_000051.4:c.5435C>T