ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033941
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133630
ClinVar RCV Id:
RCV000120154
RCV000131611
RCV001080465
RCV002225364
RCV003149825
RCV000710676
RCV003315729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ser2146Thr
CA157159
NM_001351834.2:c.6437G>C