ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827328834
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2095123
ClinVar RCV Id:
RCV003012182
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317072.1:p.Thr99Ile
CA398267441
NM_001330143.2:c.296C>T