ClinGen Allele Registry
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Canonical Allele Identifier:
PA110362
Gene: PMP22
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000295.1:p.Ser149Arg
NM_000304.4:c.445A>C
NM_000304.4:c.447C>A
NM_000304.4:c.447C>G