ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826623661
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
531692
ClinVar RCV Id:
RCV000638175
RCV000857020
RCV001507377
RCV002438690
RCV002499070
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268385.1:p.Cys85Trp
CA288098333
NM_001281456.2:c.255C>G