ClinGen Allele Registry
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Canonical Allele Identifier:
PA916033070
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181956
ClinVar RCV Id:
RCV000159723
RCV000197917
RCV000212014
RCV003467230
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg1466Gly
CA298242
NM_001351834.2:c.4396C>G