ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA197030
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187213
ClinVar RCV Id:
RCV000166918
RCV000576648
RCV004019993
ClinVar Variation Id:
3148226
ClinVar RCV Id:
RCV004440130
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Met1Leu