ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032034
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
481138
ClinVar RCV Id:
RCV000564638
RCV000628044
RCV001567142
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Leu686His
CA382537471
NM_001351834.2:c.2057T>A