ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA157121
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127389
ClinVar RCV Id:
RCV000115194
RCV000120138
RCV000199082
RCV000656760
RCV001249853
RCV003467026
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Val1468Ile
CA157119
NM_000051.4:c.4402G>A