ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031290
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
453518
ClinVar RCV Id:
RCV000525165
RCV003483654
RCV003278875
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Leu145Arg
CA382525216
NM_001351834.2:c.434T>G