ClinGen Allele Registry
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Canonical Allele Identifier:
PA645394320
Gene: PMP22
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_696997.1:p.Ser149Arg
NM_153322.3:c.445A>C
NM_153322.3:c.447C>A
NM_153322.3:c.447C>G