ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827628494
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
629611
ClinVar RCV Id:
RCV000774321
RCV001210198
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg19Thr
CA382519285
NM_001351834.2:c.56G>C