ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA236361
Gene: PLP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
191252
ClinVar RCV Id:
RCV000171442
RCV003984826
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001122306.1:p.Gly217Asp
CA236360
NM_001128834.3:c.650G>A