ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645501112
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
233529
ClinVar RCV Id:
RCV000216103
RCV000234621
RCV000478364
RCV002485433
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asp851Gly
CA6265058
NM_000051.4:c.2552A>G