ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826623442
Gene: PMP22
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001385499
ClinVar Variation:
1072721
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268384.1:p.Ser79Phe
CA398268094
NM_001281455.2:c.236C>T