ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916035022
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000198659
RCV002444808
RCV003468903
ClinVar Variation:
216236
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asp2987His
CA338090
NM_001351834.2:c.8959G>C