ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034402
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142749
ClinVar RCV Id:
RCV000132126
RCV000522314
RCV000627852
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Met2520Arg
CA169309
NM_001351834.2:c.7559T>G