ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658670730
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
481225
ClinVar RCV Id:
RCV000572136
RCV003500553
RCV004024472
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Lys2717Arg
CA382562265
NM_000051.4:c.8150A>G