ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916020230
Gene: PLP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291933.1:p.Arg82Trp
CA255713
NM_001305004.1:c.244C>T