ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825035316
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
852277
ClinVar RCV Id:
RCV001056850
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ala2391Val
CA382559557
NM_000051.4:c.7172C>T