ClinGen Allele Registry
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Canonical Allele Identifier:
PA916055023
Gene: PMP22
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
23481
ClinVar RCV:
RCV000008955
ClinVar Variation:
8442
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_696997.1:p.Asp37Val
CA119626
NM_153322.3:c.110A>T