ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827630017
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
422792
ClinVar RCV Id:
RCV000479184
RCV000535900
RCV000775870
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338764.1:p.Ile40Val
CA16619094
NM_001351835.2:c.118A>G