ClinGen Allele Registry
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Canonical Allele Identifier:
PA916031552
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
150837
ClinVar RCV:
RCV000129488
RCV000486107
RCV000675169
RCV002483260
RCV004019731
ClinVar Variation:
141123
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ile323Val
CA164527
NM_001351834.2:c.967A>G