Canonical Allele Identifier: PA916055026
Gene: PMP22 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_696997.1:p.Trp39Cys
CA347450
NM_153322.3:c.117G>C
CA398271013
NM_153322.3:c.117G>T