ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139739513
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
954618
ClinVar RCV Id:
RCV001227111
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.His2038Arg
CA382550378
NM_001351834.2:c.6113A>G