ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032137
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127348
ClinVar RCV Id:
RCV000115153
RCV000195938
RCV000589935
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asn778Ser
CA286753
NM_001351834.2:c.2333A>G