ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA165725
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141543
ClinVar RCV Id:
RCV000130115
RCV000463431
RCV000480488
RCV003467132
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asn206His
CA165723
NM_000051.4:c.616A>C