ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573071141
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1332662
ClinVar RCV Id:
RCV001805708
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Pro2029Ser
CA382550179
NM_001351834.2:c.6085C>T