ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658738694
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
490451
ClinVar RCV Id:
RCV000583287
RCV000792282
RCV001030520
RCV001526953
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu686Ile
CA382537468
NM_000051.4:c.2056C>A