ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825114641
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
637831
ClinVar RCV Id:
RCV000790156
RCV002334463
RCV002535813
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000295.1:p.Arg159Cys
CA8403293
NM_000304.4:c.475C>T