ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658670082
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
479056
ClinVar RCV Id:
RCV001240932
RCV000569743
RCV003459275
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Glu2290Ala
CA382556767
NM_000051.4:c.6869A>C