ClinGen Allele Registry
Allele Registry
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This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit
here
for the production version.
Canonical Allele Identifier:
PA2826623540
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV003740999
ClinVar Variation:
2913861
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268384.1:p.Leu147Pro
CA398739523
NM_001281455.2:c.440T>C