ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916055141
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426791
ClinVar RCV Id:
RCV000490010
RCV001348768
RCV002455951
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_696997.1:p.Pro122Leu
CA8403316
NM_153322.3:c.365C>T