ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA110446
Gene: PMP22
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000471834
RCV000518509
RCV000789510
RCV001701010
ClinVar Variation:
411592
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000295.1:p.Thr23Arg
CA16615515
NM_000304.4:c.68C>G