ClinGen Allele Registry
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Canonical Allele Identifier:
PA916055047
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8432
ClinVar RCV Id:
RCV000008947
RCV000494533
RCV001380437
RCV003338380
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_696997.1:p.Met69Lys
CA119618
NM_153322.3:c.206T>A