ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825034010
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1332082
ClinVar RCV Id:
RCV001804598
RCV002300592
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu1809Pro
CA382543973
NM_000051.4:c.5426T>C