ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826623696
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448090
ClinVar RCV Id:
RCV000517551
RCV000799700
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268385.1:p.Ala113Val
CA8403319
NM_001281456.2:c.338C>T