ClinGen Allele Registry
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Canonical Allele Identifier:
PA916031251
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127373
ClinVar RCV Id:
RCV000115178
RCV000122843
RCV000254228
RCV000679113
RCV003315635
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ile124Val
CA286812
NM_001351834.2:c.370A>G