ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA298212
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181944
ClinVar RCV Id:
RCV000159711
RCV000215116
RCV000465732
RCV000656754
RCV002288670
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Glu26Gln
CA298210
NM_000051.4:c.76G>C