ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA335901
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216202
ClinVar RCV Id:
RCV000195728
RCV000479830
RCV000562379
RCV001192418
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Arg1205Cys
CA335899
NM_000051.4:c.3613C>T