ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827629983
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142913
ClinVar RCV Id:
RCV000132385
RCV000233534
RCV000236602
RCV001355326
RCV001197402
RCV002465534
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338764.1:p.Arg32Cys
CA169733
NM_001351835.2:c.94C>T