ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573204329
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
1407715
ClinVar RCV:
RCV002044671
RCV004038898
ClinVar Variation:
1351365
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Glu642Lys
CA382536481
NM_001351834.2:c.1924G>A