ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645503347
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
419785
ClinVar RCV Id:
RCV000483178
RCV001217633
RCV004023127
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Val1912Leu
CA16619201
NM_000051.4:c.5734G>C