ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916055134
Gene: PMP22
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_696997.1:p.Ala115_Thr118del
CA259752
NM_153322.3:c.344_355del