ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580204409
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1744971
ClinVar RCV Id:
RCV002335684
RCV003096587
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asp1682Tyr
CA382540392
NM_001351834.2:c.5044G>T