ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830323154
Gene: PMP22
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000790164
ClinVar Variation:
637834
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_696996.1:p.Met69Arg
CA398268285
NM_153321.3:c.206T>G