ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031864
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
421624
ClinVar RCV Id:
RCV000487190
RCV000568864
RCV001778975
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Gly558Val
CA16619122
NM_001351834.2:c.1673G>T