ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034620
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
479023
ClinVar RCV Id:
RCV000792595
RCV000565749
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asn2697Asp
CA382562053
NM_001351834.2:c.8089A>G