ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA298247
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181957
ClinVar RCV Id:
RCV000159724
RCV000229615
RCV000445811
RCV000764933
RCV001175058
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Gln95Lys
CA298245
NM_000051.4:c.283C>A