ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830323165
Gene: PMP22
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_696996.1:p.Ser72Trp
CA398268231
NM_153321.3:c.215C>G