ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830323260
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
637390
ClinVar RCV Id:
RCV000789533
RCV001869223
RCV002281130
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_696996.1:p.Gly93Arg
CA8403373
NM_153321.3:c.277G>C
CA8403374
NM_153321.3:c.277G>A