ClinGen Allele Registry
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Canonical Allele Identifier:
PA916033803
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181975
ClinVar RCV Id:
RCV000159743
RCV000167963
RCV000212039
RCV001251135
RCV001357434
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Glu2052Lys
CA298299
NM_001351834.2:c.6154G>A