ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139730168
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
838469
ClinVar RCV Id:
RCV001040020
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Lys2710Met
CA382562187
NM_001351834.2:c.8129A>T