ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA166311
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000130389
RCV000479754
RCV000627981
RCV001175038
RCV003460926
ClinVar Variation:
141757
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asn796His
CA166309
NM_000051.4:c.2386A>C