ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916035039
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
231903
ClinVar RCV Id:
RCV000217769
RCV000555618
RCV000994721
RCV001193665
RCV002478796
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ser3001Asn
CA10579331
NM_001351834.2:c.9002G>A