ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032593
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142046
ClinVar RCV Id:
RCV000130850
RCV000475427
RCV000515162
RCV000588298
RCV001354773
RCV001731389
RCV003149903
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asn1081Ser
CA294246
NM_001351834.2:c.3242A>G