ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913191707
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
628450
ClinVar RCV Id:
RCV000772919
RCV001797140
RCV001067277
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Val1866Ile
CA382546205
NM_000051.4:c.5596G>A