ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658670503
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
478937
ClinVar RCV Id:
RCV000564504
RCV001218403
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Arg2580Lys
CA6266172
NM_000051.4:c.7739G>A