ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580152709
Gene: PLP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001122306.1:p.Cys169Arg
CA414103719
NM_001128834.3:c.505T>C