ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826623581
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8445
ClinVar RCV Id:
RCV000008958
RCV000008959
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268385.1:p.Ser22Phe
CA254390
NM_001281456.2:c.65C>T