ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658669580
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
482544
ClinVar RCV Id:
RCV000565602
RCV001591332
RCV001231064
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu1851Phe
CA6265727
NM_000051.4:c.5551C>T