ClinGen Allele Registry
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Canonical Allele Identifier:
PA916032046
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
407468
ClinVar RCV Id:
RCV000460079
RCV000581722
RCV003153614
RCV003470413
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Glu699Gln
CA16613085
NM_001351834.2:c.2095G>C