ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580206695
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1976030
ClinVar RCV Id:
RCV002760693
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ser2685Leu
CA382561939
NM_001351834.2:c.8054C>T