ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645490657
Gene: PLP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001122306.1:p.Ile47Thr
NM_001128834.3:c.140T>C