ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034317
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
481101
ClinVar RCV Id:
RCV000572756
RCV000671090
RCV002298670
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Leu2452Pro
CA382559953
NM_001351834.2:c.7355T>C