ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825114586
Gene: PMP22
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000295.1:p.Ser131Cys
CA398739650
NM_000304.4:c.392C>G