ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830323016
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411592
ClinVar RCV Id:
RCV000518509
RCV000471834
RCV000789510
RCV001701010
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_696996.1:p.Thr23Arg
CA16615515
NM_153321.3:c.68C>G