ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA110439
Gene: PMP22
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000295.1:p.Thr118Met
NM_000304.4:c.353C>T