ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741892889
Gene: PMP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002668.1:p.Ile43Ser
CA371518216
NM_002677.5:c.128T>G