ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826623548
Gene: PMP22
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268384.1:p.Ile152Val
CA398739486
NM_001281455.2:c.454A>G