ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658669573
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
485174
ClinVar RCV Id:
RCV000565591
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu1845Met
CA382545880
NM_000051.4:c.5533T>A