ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645504177
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
234142
ClinVar RCV Id:
RCV000218059
RCV001048572
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ala2649Val
CA10579277
NM_000051.4:c.7946C>T