ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916035286
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
487450
ClinVar RCV Id:
RCV000576405
RCV000788912
RCV000777474
RCV003459414
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338765.1:p.Ser111Asn
CA382521837
NM_001351836.2:c.332G>A