ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830323436
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
245805
ClinVar RCV Id:
RCV000236879
RCV000790159
RCV001209293
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_696996.1:p.Gly150Asp
CA10584542
NM_153321.3:c.449G>A