ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830322982
Gene: PMP22
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_696996.1:p.Ser22Tyr
CA398271674
NM_153321.3:c.65C>A