ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825114631
Gene: PMP22
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002328610
ClinVar Variation:
1740959
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000295.1:p.Gly150Ser
CA398739502
NM_000304.4:c.448G>A