ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658669570
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
453584
ClinVar RCV Id:
RCV000527814
RCV000563014
RCV003492090
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu1842Phe
CA228389689
NM_000051.4:c.5524C>T