ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034225
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186868
ClinVar RCV Id:
RCV000166522
RCV000168469
RCV000590313
RCV000855629
RCV001356845
RCV003468786
RCV003483546
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg2392Trp
CA196089
NM_001351834.2:c.7174C>T