ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA167376
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142089
ClinVar RCV Id:
RCV000130916
RCV000698695
RCV002492507
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Glu2374Ala
CA167374
NM_000051.4:c.7121A>C