ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825036130
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1762613
ClinVar RCV Id:
RCV002430142
RCV003099883
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu2750Ser
CA382562663
NM_000051.4:c.8249T>C