ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830323020
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1304277
ClinVar RCV Id:
RCV001752044
RCV003581799
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_696996.1:p.Ile24Met
CA398271663
NM_153321.3:c.72C>G