ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA286790
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127362
ClinVar RCV Id:
RCV000115167
RCV000119220
RCV000211991
RCV000584904
RCV001356395
RCV001798313
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ser978Pro
CA286788
NM_000051.4:c.2932T>C