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:
PA2580529066
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002410920
ClinVar Variation:
1782887
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_696997.1:p.Thr36Ala
CA398271080
NM_153322.3:c.106A>G