ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031939
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
407687
ClinVar RCV Id:
RCV000472274
RCV000572810
RCV001194266
RCV001584149
RCV003476061
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Val613Gly
CA16613012
NM_001351834.2:c.1838T>G