Canonical Allele Identifier: PA2830323432
Gene: PMP22 HGNC NCBI

Linked Data

ClinVar Variation Id: 234605
ClinVar RCV Id: RCV000213954 RCV000790160
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_696996.1:p.Ser149Arg
CA10577555
NM_153321.3:c.447C>A
CA398739503
NM_153321.3:c.447C>G
CA398739509
NM_153321.3:c.445A>C