ClinGen Allele Registry
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Canonical Allele Identifier:
PA916033307
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
475886
ClinVar RCV:
RCV000568872
RCV000812463
RCV001538998
RCV001764634
ClinVar Variation:
479007
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ile1659Val
CA6265589
NM_001351834.2:c.4975A>G