ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830323194
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
431943
ClinVar RCV Id:
RCV000498886
RCV000518311
RCV000790161
RCV003581670
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_696996.1:p.Leu78Pro
CA398268114
NM_153321.3:c.233T>C