ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826623520
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
994920
ClinVar RCV Id:
RCV001288682
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268384.1:p.Gly133Asp
CA398739636
NM_001281455.2:c.398G>A