ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658669372
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
479007
ClinVar RCV Id:
RCV000568872
RCV000812463
RCV001538998
RCV001764634
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile1659Val
CA6265589
NM_000051.4:c.4975A>G