ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742018465
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2808588
ClinVar RCV Id:
RCV003741684
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_696997.1:p.Cys42Tyr
CA398270949
NM_153322.3:c.125G>A