ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031315
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135756
ClinVar RCV Id:
RCV000122853
RCV000436828
RCV000219862
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Gln161Pro
CA332336
NM_001351834.2:c.482A>C