ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA110250
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8439
ClinVar RCV Id:
RCV000008954
RCV000594940
RCV001221866
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000295.1:p.Gly150Cys
CA119624
NM_000304.4:c.448G>T