ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826623761
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8444
ClinVar RCV Id:
RCV000008957
RCV000193053
RCV000778488
RCV001332355
RCV001173916
RCV001229968
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268385.1:p.Arg157Trp
CA119628
NM_001281456.2:c.469C>T