ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658669813
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000565498
RCV001298160
ClinVar Variation:
481263
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu2006Val
CA382549810
NM_000051.4:c.6016T>G