ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA249433
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3045
ClinVar RCV Id:
RCV000003186
RCV000545206
RCV001027090
RCV004018544
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Tyr2677Cys
CA249431
NM_000051.4:c.8030A>G