ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916055073
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8429
ClinVar RCV Id:
RCV000008941
RCV002512923
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_696997.1:p.Ser79Cys
CA254385
NM_153322.3:c.236C>G