ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA279112
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217236
ClinVar RCV Id:
RCV000201185
RCV001206556
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000295.1:p.Ser79Thr
CA279110
NM_000304.4:c.235T>A