ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830323361
Gene: PMP22
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_696996.1:p.Pro122Leu
CA8403316
NM_153321.3:c.365C>T