ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827328753
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8443
ClinVar RCV Id:
RCV000008956
RCV001173915
RCV002288476
RCV003581556
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317072.1:p.Ala67Thr
CA254388
NM_001330143.2:c.199G>A