ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032213
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141644
ClinVar RCV Id:
RCV000130241
RCV000168264
RCV000483469
RCV001174859
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg832His
CA166023
NM_001351834.2:c.2495G>A