ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830323458
Gene: PMP22
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000789530
ClinVar Variation:
637387
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_696996.1:p.Arg157Gly
CA398739445
NM_153321.3:c.469C>G