ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825032800
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1049558
ClinVar RCV Id:
RCV001355826
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Tyr1252His
CA382524216
NM_000051.4:c.3754T>C