ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645504109
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
407490
ClinVar RCV Id:
RCV000485307
RCV000474353
RCV000565171
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile2606Met
CA16613132
NM_000051.4:c.7818A>G