ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825032429
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
941834
ClinVar RCV Id:
RCV001211693
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu1096Ser
CA382517250
NM_000051.4:c.3287T>C