ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645503839
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
407715
ClinVar RCV Id:
RCV000477084
RCV001026441
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Met2482Val
CA16613428
NM_000051.4:c.7444A>G