ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658669591
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
478964
ClinVar RCV Id:
RCV000570161
RCV000709186
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Arg1859Lys
CA382546106
NM_000051.4:c.5576G>A