ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA337253
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
215728
ClinVar RCV Id:
RCV000762229
RCV001172746
RCV001087677
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000295.1:p.His51Arg
CA337251
NM_000304.4:c.152A>G