ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826623707
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8431
ClinVar RCV Id:
RCV000008945
RCV000008946
RCV000032119
RCV000194789
RCV000197572
RCV000224441
RCV001027473
RCV001507314
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268385.1:p.Thr118Met
CA119616
NM_001281456.2:c.353C>T