ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830323152
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
531685
ClinVar RCV Id:
RCV000638164
RCV001731826
RCV002420718
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_696996.1:p.Met69Thr
CA288098399
NM_153321.3:c.206T>C