ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034355
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127444
ClinVar RCV Id:
RCV000115250
RCV000565502
RCV002515793
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Val2484Ile
CA286984
NM_001351834.2:c.7450G>A