ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827630217
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181957
ClinVar RCV Id:
RCV000159724
RCV000229615
RCV000445811
RCV000764933
RCV001175058
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338764.1:p.Gln95Lys
CA298245
NM_001351835.2:c.283C>A