ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826623722
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
637835
ClinVar RCV Id:
RCV000790165
RCV001873226
RCV003325975
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268385.1:p.Ser131Cys
CA398739650
NM_001281456.2:c.392C>G