ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139730247
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001225182
RCV002418781
ClinVar Variation:
952964
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Gly2718Arg
CA382562327
NM_001351834.2:c.8152G>C