ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645473781
Gene: PMP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
243087
ClinVar RCV Id:
RCV000235076
RCV000736030
RCV002518417
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002668.1:p.Ile43Asn
CA10584083
NM_002677.5:c.128T>A