ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA286796
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127364
ClinVar RCV Id:
RCV000115169
RCV000196996
RCV000515313
RCV000588846
RCV000855626
RCV001293035
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ser99Gly
CA286794
NM_000051.4:c.295A>G