ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658801479
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
524340
ClinVar RCV Id:
RCV000628053
RCV001021541
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu1322Pro
CA382526111
NM_000051.4:c.3965T>C