ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645503772
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
407640
ClinVar RCV Id:
RCV000463277
RCV000771628
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Val2367Ile
CA16613120
NM_000051.4:c.7099G>A