ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499299442
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1184514
ClinVar RCV Id:
RCV001542602
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_696997.1:p.Ala114Val
CA398739786
NM_153322.3:c.341C>T