ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139748077
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
889626
ClinVar RCV Id:
RCV001123657
RCV001123656
RCV002261284
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_696997.1:p.Val25Gly
CA8403451
NM_153322.3:c.74T>G