ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034375
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
232481
ClinVar RCV Id:
RCV000222504
RCV000233636
RCV000486420
RCV000764945
RCV001818535
RCV003338468
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asn2501Ser
CA6266116
NM_001351834.2:c.7502A>G