ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830323290
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188095
ClinVar RCV Id:
RCV000167942
RCV000493971
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_696996.1:p.Gln103Arg
CA334032
NM_153321.3:c.308A>G