ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032093
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
645564
ClinVar RCV Id:
RCV000799669
RCV001189760
RCV001662827
RCV003230594
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Met732Val
CA382538939
NM_001351834.2:c.2194A>G