ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891845567
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
572457
ClinVar RCV Id:
RCV000693840
RCV004025170
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000295.1:p.Ile137Val
CA8403304
NM_000304.4:c.409A>G