ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830323396
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
994920
ClinVar RCV Id:
RCV001288682
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_696996.1:p.Gly133Asp
CA398739636
NM_153321.3:c.398G>A