ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830323435
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
384327
ClinVar RCV Id:
RCV000435815
RCV000687146
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_696996.1:p.Gly150Arg
CA16607534
NM_153321.3:c.448G>C