ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA298338
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181989
ClinVar RCV Id:
RCV000228653
RCV000218850
RCV000590682
RCV003467239
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Tyr583Cys
CA298336
NM_000051.4:c.1748A>G