ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580193883
Gene: PLP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291933.1:p.Arg82Gly
CA414102877
NM_001305004.1:c.244C>G