ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826623676
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
637375
ClinVar RCV Id:
RCV000789516
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268385.1:p.Gly100Glu
CA398267432
NM_001281456.2:c.299G>A